PSEN2

Summary

Gene Symbol: PSEN2
Description: presenilin 2
Alias: AD3L, AD4, CMD1V, PS2, STM2, AD3LP, AD5, Alzheimer disease 4, E5-1, PS-2, STM-2
Species: human

Top Publications

  1. pmc Interaction of presenilins with the filamin family of actin-binding proteins
    W Zhang
    Department of Pediatrics and Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 18:914-22. 1998
  2. pmc A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity
    Elizabeth A Heilig
    Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Biol Chem 285:22350-9. 2010
  3. doi 4-O-Methylhonokiol attenuates memory impairment in presenilin 2 mutant mice through reduction of oxidative damage and inactivation of astrocytes and the ERK pathway
    Young Jung Lee
    College of Pharmacy, Chungbuk National University, Cheongju, Chungbuk 361 763, Korea
    Free Radic Biol Med 50:66-77. 2011
  4. pmc RNAi-mediated inhibition of presenilin 2 inhibits glioma cell growth and invasion and is involved in the regulation of Nrg1/ErbB signaling
    Bei Liu
    Department of Neurosurgery and Institute for Functional Brain Disorders, Tangdu Hospital, Xi an, People s Republic of China
    Neuro Oncol 14:994-1006. 2012
  5. ncbi Functional characterization of novel presenilin-2 variants identified in human breast cancers
    M D To
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Oncogene 25:3557-64. 2006
  6. pmc Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
    Suman Jayadev
    Department of Neurology, University of Washington, 1660 S Columbian Way, 182 GRECC, Seattle, WA 98108, USA
    Brain 133:1143-54. 2010
  7. ncbi Candidate gene for the chromosome 1 familial Alzheimer's disease locus
    E Levy-Lahad
    Geriatric Research Education, and Clinical Center 182B, Veterans Affairs Medical Center, Seattle, WA 98108, USA
    Science 269:973-7. 1995
  8. ncbi Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing
    G Yu
    Centre for Research in Neurodegenerative Diseases, Toronto Western Hospital, and Department of Medicine Neurology, University of Toronto, Ontario, Canada
    Nature 407:48-54. 2000
  9. ncbi A sequence within the first transmembrane domain of PEN-2 is critical for PEN-2-mediated endoproteolysis of presenilin 1
    Seong Hun Kim
    Department of Neurobiology, Pharmacology, and Physiology, The University of Chicago, Chicago, Illinois 60637, USA
    J Biol Chem 280:1992-2001. 2005
  10. pmc Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization
    Matthias Fassler
    Leibniz Institut für Altersforschung Fritz Lipmann Institut, 07743 Jena, Germany
    J Biol Chem 286:38390-6. 2011

Detail Information

Publications209 found, 100 shown here

  1. pmc Interaction of presenilins with the filamin family of actin-binding proteins
    W Zhang
    Department of Pediatrics and Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 18:914-22. 1998
    Mutations in presenilin genes PS1 and PS2 account for approximately 50% of early-onset familial Alzheimer's disease (FAD)...
  2. pmc A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity
    Elizabeth A Heilig
    Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Biol Chem 285:22350-9. 2010
    Mutations in presenilin-1 and presenilin-2 (PS1 and PS2) are the most common cause of familial Alzheimer disease...
  3. doi 4-O-Methylhonokiol attenuates memory impairment in presenilin 2 mutant mice through reduction of oxidative damage and inactivation of astrocytes and the ERK pathway
    Young Jung Lee
    College of Pharmacy, Chungbuk National University, Cheongju, Chungbuk 361 763, Korea
    Free Radic Biol Med 50:66-77. 2011
    Presenilin 2 (PS2) mutation increases Aβ generation and neuronal cell death in the brains of Alzheimer disease (AD) patients...
  4. pmc RNAi-mediated inhibition of presenilin 2 inhibits glioma cell growth and invasion and is involved in the regulation of Nrg1/ErbB signaling
    Bei Liu
    Department of Neurosurgery and Institute for Functional Brain Disorders, Tangdu Hospital, Xi an, People s Republic of China
    Neuro Oncol 14:994-1006. 2012
    ..In this study, we found that the protein expression of presenilin 2 (PS2) was significantly increased in glioma tissues, at least partially because of promoter demethylation...
  5. ncbi Functional characterization of novel presenilin-2 variants identified in human breast cancers
    M D To
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Oncogene 25:3557-64. 2006
    ..Nonetheless, these results collectively suggest that the novel PS-2 alleles described here, especially R71W, affect PS-2 function and may potentially confer a moderate risk of susceptibility to breast cancer...
  6. pmc Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
    Suman Jayadev
    Department of Neurology, University of Washington, 1660 S Columbian Way, 182 GRECC, Seattle, WA 98108, USA
    Brain 133:1143-54. 2010
    ..A novel premature termination mutation supports loss of function or haploinsufficiency as pathogenic mechanisms in presenilin 2 associated Alzheimer's disease...
  7. ncbi Candidate gene for the chromosome 1 familial Alzheimer's disease locus
    E Levy-Lahad
    Geriatric Research Education, and Clinical Center 182B, Veterans Affairs Medical Center, Seattle, WA 98108, USA
    Science 269:973-7. 1995
    A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182)...
  8. ncbi Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing
    G Yu
    Centre for Research in Neurodegenerative Diseases, Toronto Western Hospital, and Department of Medicine Neurology, University of Toronto, Ontario, Canada
    Nature 407:48-54. 2000
    ..Nicastrin and presenilins are therefore likely to be functional components of a multimeric complex necessary for the intramembranous proteolysis of proteins such as Notch/GLP-1 and betaAPP...
  9. ncbi A sequence within the first transmembrane domain of PEN-2 is critical for PEN-2-mediated endoproteolysis of presenilin 1
    Seong Hun Kim
    Department of Neurobiology, Pharmacology, and Physiology, The University of Chicago, Chicago, Illinois 60637, USA
    J Biol Chem 280:1992-2001. 2005
    ..These results suggest that the proximal two-thirds of the PEN-2 TMD1 is functionally important for endoproteolysis of PS1 holoproteins and the generation of PS1 fragments, essential components of the gamma-secretase complex...
  10. pmc Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization
    Matthias Fassler
    Leibniz Institut für Altersforschung Fritz Lipmann Institut, 07743 Jena, Germany
    J Biol Chem 286:38390-6. 2011
    ..Intriguingly, a charged aspartate in TMD4 is critical for γ-secretase activity, most likely by stabilizing the newly formed complex...
  11. ncbi Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1
    K Duff
    Suncoast Alzheimer s Disease Laboratories, University of South Florida, Tampa, 33612, USA
    Nature 383:710-3. 1996
    Mutations in the genes encoding amyloid-beta precursor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2) are known to cause early-onset, autosomal dominant Alzheimer's disease...
  12. ncbi Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, ul Strzeszynska 32, 60 479 Poznan
    J Appl Genet 44:231-4. 2003
    ..To date, some missense mutations in three genes encoding the amyloid precursor protein, presenilin 1 (PS1) and 2 (PS2) have been found to cause familial EOAD...
  13. doi A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype
    Gabriella Marcon
    Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
    J Alzheimers Dis 16:509-11. 2009
    ..160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified...
  14. ncbi Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
    M Cruts
    Laboratory of Neurogenetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Department of Biochemistry, Antwerpen, Belgium
    Hum Mol Genet 7:43-51. 1998
    ..Further, polymorphisms were detected in the promoter and the 5'-non-coding region of PS -1 and in intronic and exonic sequences of PS -2 that will be useful in genetic association studies...
  15. ncbi Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells
    D M Kovacs
    Genetics and Aging Unit, Massachusetts General Hospital East, Harvard Medical School, Charlestown 02129, USA
    Nat Med 2:224-9. 1996
    ..These two novel genes, presenilin 1 (PS1) and presenilin 2 (PS2) are members of an evolutionarily conserved gene family...
  16. pmc Wild-type and mutated presenilins 2 trigger p53-dependent apoptosis and down-regulate presenilin 1 expression in HEK293 human cells and in murine neurons
    Cristine Alves da Costa
    Institut de Pharmacologie Moléculaire et Cellulaire of Centre National de la Recherche Scientifique, Unité Mixte de Recherche 6097, Valbonne 06560, France
    Proc Natl Acad Sci U S A 99:4043-8. 2002
    ..Here we establish that the overexpression of presenilin 2 (PS2) and its mutated form Asn-141-Ile-PS2 alters the viability of human embryonic kidney (HEK)293 cells as established ..
  17. ncbi Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia
    D Arango
    Neuro Sciences Group, Instituto Nacional de Salud, Bogota, Colombia
    Am J Med Genet 103:138-43. 2001
    Nearly all mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid beta precursor protein (APP) genes lead to early-onset Alzheimer disease (EOAD, onset age at or before 65 years)...
  18. ncbi Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation
    J Li
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Cell 90:917-27. 1997
    ..We discuss a pathogenic pathway for familial Alzheimer's disease in which defective presenilin function causes chromosome missegregation during mitosis, resulting in apoptosis and/or trisomy 21 mosaicism...
  19. ncbi A familial Alzheimer's disease locus on chromosome 1
    E Levy-Lahad
    Geriatric Research, Education, and Clinical Center 182B, Veterans Affairs Medical Center, Seattle, WA 98108 1597, USA
    Science 269:970-3. 1995
    ..A 112-base pair allele of D1S479 co-segregated with the disease in five of seven families, which is consistent with a common genetic founder. This study demonstrates the presence of an AD locus on chromosome 1q31-42...
  20. ncbi Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland
    Cezary Zekanowski
    Laboratory of Neurodegeneration, International Institute of Molecular and Cell Biology, 02 109 Warsaw, Poland
    Exp Neurol 184:991-6. 2003
    ..MCI) and family history of AD, we performed a screening for mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP) genes...
  21. pmc Pen2 and presenilin-1 modulate the dynamic equilibrium of presenilin-1 and presenilin-2 gamma-secretase complexes
    Lisa Placanica
    Molecular Pharmacology and Chemistry Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    J Biol Chem 284:2967-77. 2009
    ..Furthermore we reveal that the equilibrium of PS1- and PS2-containing active complexes is dynamic and altered by overexpression of Pen2 or PS1 mutants and that formation of ..
  22. ncbi Proteolytic fragments of the Alzheimer's disease associated presenilins-1 and -2 are phosphorylated in vivo by distinct cellular mechanisms
    J Walter
    Department of Molecular Biology, Central Institute of Mental Health, Mannheim, Germany
    Biochemistry 37:5961-7. 1998
    ..Interestingly, the potential phosphorylation sites are located directly adjacent to the recently identified caspase cleavage sites...
  23. ncbi The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin
    G Yu
    Centre for Research in Neurodegenerative Diseases, Departments of Medicine and Medical Biophysics, University of Toronto, Toronto, Ontario M5S 3H2, Canada
    J Biol Chem 273:16470-5. 1998
    ..and discontinuous sucrose gradient analysis to investigate the distribution and native conformation of PS1 and PS2 during this regulated processing in cultured cells and in brain...
  24. ncbi The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation
    W T Kimberly
    Department of Neurology, Harvard Medical School and Center for Neurologic Diseases, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    J Biol Chem 275:3173-8. 2000
    ..Presenilin 2 (PS2) shares substantial sequence and possibly functional homology with PS1...
  25. ncbi Pathological activity of familial Alzheimer's disease-associated mutant presenilin can be executed by six different gamma-secretase complexes
    Keiro Shirotani
    Munich Center for Integrated Protein Science and Adolf Butenandt Institute, Department of Biochemistry, Laboratory for Alzheimer s and Parkinson s Disease Research, Ludwig Maximilians University, Schillerstr 44, Munich, Germany
    Neurobiol Dis 27:102-7. 2007
    ..complexes are active in APP processing and that all combinations of APH-1 variants with either FAD mutant PS1 or PS2 support pathogenic Abeta(42) production...
  26. pmc The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue
    T Tomita
    Laboratory of Neurochemistry, National Institute for Physiological Sciences, Okazaki, Japan
    Proc Natl Acad Sci U S A 94:2025-30. 1997
    ..in the pathogenetic mechanisms of early-onset familial Alzheimer disease (FAD), we expressed cDNAs for wild-type PS2 and PS2 with the Volga German (N141I) mutation in cultured cells and then examined the metabolism of the ..
  27. ncbi Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
    E I Rogaev
    Department of Medicine Neurology, University of Toronto, Ontario, Canada
    Nature 376:775-8. 1995
    ..Our results also indicate that still other AD susceptibility genes exist...
  28. ncbi APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes
    YongJun Gu
    Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario M5S 3H2, Canada
    J Biol Chem 278:7374-80. 2003
    ..Taken together, our data suggest that APH-1 proteins, and APH-1(1) in particular, may have a role in the initial assembly and maturation of presenilin.nicastrin complexes...
  29. pmc When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease
    Michael S Wolfe
    Center for Neurologic Diseases, Harvard Medical School, Brigham and Women s Hospital, 77 Avenue Louis Pasteur, Harvard Institute of Medicine 754, Boston, Massachusetts 02115, USA
    EMBO Rep 8:136-40. 2007
    ..In this review, a unifying hypothesis is presented that puts forward a biochemical mechanism by which slower less-efficient forms of the protease can result in a greater proportion of 42-residue Abeta...
  30. ncbi Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment
    J D Buxbaum
    Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Med 4:1177-81. 1998
    ..disease (AD) cases are caused by mutations in the highly related genes presenilin 1 (PS1) and presenilin 2 (PS2)...
  31. pmc Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases
    Peter Mastrangelo
    Centre for Research in Neurodegenerative Diseases, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada M5S 3H2
    Proc Natl Acad Sci U S A 102:8972-7. 2005
    ..of amyloid-beta precursor protein (APP) and Notch, and familial Alzheimer's disease (FAD) mutations in PS1 or PS2 genes shift APP cleavage from production of amyloid-beta (Abeta) 40 peptide to greater production of Abeta42...
  32. ncbi Participation of presenilin 2 in apoptosis: enhanced basal activity conferred by an Alzheimer mutation
    B Wolozin
    Unit on Alzheimer Biology, Laboratory of Clinical Science, National Institute of Mental Health, Building 10, Room 3D41, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Science 274:1710-3. 1996
    Overexpression of the familial Alzheimer's disease gene Presenilin 2 (PS2) in nerve growth factor-differentiated PC12 cells increased apoptosis induced by trophic factor withdrawal or beta-amyloid...
  33. pmc Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease
    Bart De Strooper
    KULeuven and Flanders Interuniversitary Institute for Biotechnology VIB, Centre for Human Genetics, Herestraat 49, 3000 Leuven, Belgium
    EMBO Rep 8:141-6. 2007
    ..In this review, I evaluate the implications of this model for the amyloid-cascade hypothesis and for the efficacy of presenilin/gamma-secretase as a drug target...
  34. ncbi Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease
    T W Kim
    Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA
    Science 277:373-6. 1997
    ..familial Alzheimer's disease (FAD) are caused by mutations in the genes encoding the presenilin 1 (PS1) and PS2 proteins, both of which undergo regulated endoproteolytic processing...
  35. ncbi Presenilins are processed by caspase-type proteases
    H Loetscher
    Pharma Division, Preclinical Central Nervous System Research GeneTechnology, F Hoffmann La Roche Ltd, CH 4070 Basel, Switzerland
    J Biol Chem 272:20655-9. 1997
    Presenilin 1 (PS1) and presenilin 2 (PS2) are endoproteolytically processed in vivo and in cell transfectants to yield 27-35-kDa N-terminal and 15-24-kDa C-terminal fragments...
  36. pmc A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein
    S M Stabler
    Medical Biotechnology Center and Department of Neurology, University of Maryland, Baltimore, Maryland 21201, USA
    J Cell Biol 145:1277-92. 1999
    ..here the identification of a calcium-binding protein, calmyrin, that interacts preferentially with presenilin 2 (PS2)...
  37. ncbi Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch
    Sheu Fen Lee
    Center for Basic Neuroscience and Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9111, USA
    J Biol Chem 277:45013-9. 2002
    ..These data indicate that mAPH-1 is probably a functional component of the gamma-secretase complex required for the intramembrane proteolysis of APP and Notch...
  38. ncbi Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease
    Carmine Tomaino
    J Neurol 254:391-3. 2007
  39. ncbi Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases
    M Van de Craen
    Department of Molecular Biology, Flanders Interuniversity Institute for Biotechnology and University of Gent, Belgium
    FEBS Lett 445:149-54. 1999
    Mutations in the presenilin (PS) genes PSI and PS2 are involved in Alzheimer's disease (AD). Recently, apoptosis-associated cleavage of PS proteins was identified...
  40. doi Novel role of presenilins in maturation and transport of integrin beta 1
    Kun Zou
    Department of Alzheimer s Disease Research, National Institute for Longevity Sciences, NCGG, 36 3 Gengo, Morioka, Obu, Aichi 474 8522, Japan
    Biochemistry 47:3370-8. 2008
    ..By characterizing PS-deficient fibroblasts, we found that integrin beta1 maturation is promoted markedly in PS1 and PS2 double-deficient fibroblasts and moderately in PS1- or PS2-deficient fibroblasts; in contrast, nicastrin maturation ..
  41. ncbi Interaction of Alzheimer's presenilin-1 and presenilin-2 with Bcl-X(L). A potential role in modulating the threshold of cell death
    B J Passer
    T Cell Apoptosis Unit, Laboratory of Cellular and Molecular Immunology, NIAID, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 274:24007-13. 1999
    ..an anti-apoptotic member of the Bcl-2 family was shown to interact with the carboxyl-terminal fragments of PS1 and PS2 by the yeast two-hybrid system...
  42. ncbi Presenilins mediate phosphatidylinositol 3-kinase/AKT and ERK activation via select signaling receptors. Selectivity of PS2 in platelet-derived growth factor signaling
    David E Kang
    Department of Neurosciences, University of California, San Diego, La Jolla, California 92093, USA
    J Biol Chem 280:31537-47. 2005
    The Alzheimer's disease-linked genes, PS1 and PS2, are required for intramembrane proteolysis of multiple type I proteins, including Notch and amyloid precursor protein...
  43. ncbi Expression profiles of two human APH-1 genes and their roles in formation of presenilin complexes
    Shinya Saito
    Department of Demyelinating Disease and Aging, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 187 8502, Japan
    Biochem Biophys Res Commun 327:18-22. 2005
    ..These findings indicate that APH-1a plays an essential role in the formation of presenilin-gamma-secretase complexes...
  44. doi Interleukin-1 receptor type 1 is a substrate for gamma-secretase-dependent regulated intramembrane proteolysis
    Baukje M Elzinga
    Signal Transduction Laboratory, Biochemistry Department, University College Cork, Cork, Ireland
    J Biol Chem 284:1394-409. 2009
    ..These findings also suggest that regulated intramembrane proteolysis may be a control mechanism for IL-1R1-mediated signaling...
  45. ncbi A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease
    Renato Scacchi
    CNR Institute of Molecular Biology and Pathology, c o Department of Genetics and Molecular Biology, University La Sapienza, P le Aldo Moro 5, 00185 Rome, Italy
    Neurosci Lett 418:282-5. 2007
    ..been reportedly caused by mutations in amyloid precursor protein (APP), presenilin-1 (PSEN1), or presenilin-2 (PSEN2) genes, whereas the genetic component for the sporadic form is less clear...
  46. pmc Comparison of presenilin 1 and presenilin 2 γ-secretase activities using a yeast reconstitution system
    Yoji Yonemura
    Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo 153 8902, Japan
    J Biol Chem 286:44569-75. 2011
    ..PS has two homologs, namely, PS1 and PS2. To compare the activity of these complexes containing different PSs, we reconstituted them in yeast, which lacks γ..
  47. ncbi Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3
    P Vito
    T Cell Molecular Biology Unit, Laboratory of Cellular and Molecular Immunology, NIAID, National Institutes of Health, Maryland 20892, USA
    J Biol Chem 271:31025-8. 1996
    ALG-3, a truncated mouse homologue of the chromosome 1 familial Alzheimer's disease gene PS2, rescues T hybridoma 3DO cells from T-cell receptor-induced apoptosis by inhibiting Fas ligand induction and Fas signaling...
  48. ncbi Presenilin mutations in Alzheimer's disease
    M Cruts
    Flanders Interuniversity Institute for Biotechnology, BornBunge Foundation, University of Antwerp, Department of Biochemistry, Antwerpen, Belgium
    Hum Mutat 11:183-90. 1998
    ..In vivo and in vitro studies have linked PS mutations to amyloid deposition, an early pathological event in AD brains...
  49. ncbi Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene
    E Levy-Lahad
    Division of Medical Genetics, University of Washington, Seattle, Washington, 98195, USA
    Genomics 34:198-204. 1996
    Mutations in the gene STM2 result in autosomal dominant familial Alzheimer disease. To screen for mutations and to identify regulatory elements for this gene, the genomic DNA sequence and intron-exon structure were determined...
  50. pmc The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum
    J Walter
    Central Institute of Mental Health, Department of Molecular Biology, Mannheim, Germany
    Mol Med 2:673-91. 1996
    ..Mutations in the recently cloned Presenilin genes (PS-1 and PS-2) are by far the most common cause of early onset familial AD...
  51. pmc Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3
    J Li
    Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 92:12180-4. 1995
    ..The presence of several S/TPXX DNA binding motifs in both the AD3 protein and the AD3-like protein /AD4 protein suggests a possible role in intracellular signaling and gene expression or in linking chromatin to the ..
  52. ncbi Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease
    E I Rogaev
    Department of Medicine, University of Toronto, Toronto, Ontario, M5S 3H2, Canada
    Genomics 40:415-24. 1997
    Mutations in the human presenilin genes (PSEN1 and PSEN2) are associated with early onset familial Alzheimer disease...
  53. ncbi The presenilin 2 loop domain interacts with the mu-calpain C-terminal region
    K Shinozaki
    Laboratory of Neurochemistry, National Institute for Physiological Sciences, Myodaiji, Okazaki, Aichi 444, Japan
    Int J Mol Med 1:797-9. 1998
    Presenilin 2 (PS2) is a gene responsible for the early-onset familial Alzheimer's disease (AD). PS2 mutations are considered to be closely related to the pathogenesis of AD...
  54. ncbi A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis
    Suzuka Ataka
    Department of Neurology, Osaka City University Medical School, Osaka, Japan
    Arch Neurol 61:1773-6. 2004
    ..disease is caused by mutations in the amyloid precursor protein (APP), presenilin-1 (PSEN1), or presenilin-2 (PSEN2) genes. Phenotypic diversity has been reported to be associated with various mutations in PSEN1...
  55. ncbi A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2
    M Yasuda
    Hyogo Institute for Aging Brain and Cognitive Disorders, Himeji, Japan
    Arch Neurol 56:65-9. 1999
    ..To disclose a novel mutation of the presenilin 1 (PS1) gene responsible for early-onset Alzheimer disease and to clarify genotype-phenotype correlation that should help to establish the function of this protein...
  56. ncbi Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12
    M A Pericak-Vance
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    JAMA 278:1237-41. 1997
    ....
  57. ncbi Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene
    J R Murrell
    Department of Pathology and Laboratory Medicine, 635 Barnhill Dr, Medical Science Bldg A128, Indianapolis, IN 46202, USA
    Arch Neurol 57:885-7. 2000
    Alzheimer disease is the most common form of dementia. Mutations in the genes amyloid precursor protein (APP), presenilin 1(PS1) and presenilin 2(PS2) have been found in early-onset familial forms of Alzheimer disease
  58. ncbi Genes and mechanisms involved in beta-amyloid generation and Alzheimer's disease
    H Steiner
    Adolf-Butenandt-Institute, Ludwig-Maximilians-University, Dept. of Biochemistry, Munich, Germany
    Eur Arch Psychiatry Clin Neurosci 249:266-70. 1999
    ..Like the mutations identified within the betaAPP gene, mutations in PS1 and PS2 cause the increased generation of Abeta42...
  59. pmc Identification and characterization of Tc1/mariner-like DNA transposons in genomes of the pathogenic fungi of the Paracoccidioides species complex
    Marjorie M Marini
    Departamento de Microbiologia, Instituto de Ciencias Biologicas, Universidade Federal de Minas Gerais, 31270 901 Belo Horizonte, MG, Brazil
    BMC Genomics 11:130. 2010
    ..In this study the identification and characterization of class II transposable elements in the genomes of these fungi was carried out...
  60. ncbi The genetics of very early onset Alzheimer disease
    Christopher M Filley
    Department of Neurology, University of Colorado School of Medicine, Denver, CO, USA
    Cogn Behav Neurol 20:149-56. 2007
    ..This study was undertaken to clarify the genetics of very early onset Alzheimer disease (VEOAD), defined as AD beginning before age 35...
  61. doi Pharmacogenomics and therapeutic prospects in dementia
    Ramon Cacabelos
    EuroEspes Biomedical Research Center, Institute for CNS Disorders, 15166 Bergondo, Coruna, Spain
    Eur Arch Psychiatry Clin Neurosci 258:28-47. 2008
    ..Mutations in genes directly associated with the amyloid cascade (APP, PS1, PS2) are only present in less than 5% of the AD population; however, the presence of the APOE-4 allele in the ..
  62. ncbi Recruitment of distinct chromatin-modifying complexes by tamoxifen-complexed estrogen receptor at natural target gene promoters in vivo
    Xue Feng Liu
    Department of Molecular and Integrative Physiology, University of Illinois at Urbana Champaign, Urbana, Illinois 61801, USA
    J Biol Chem 279:15050-8. 2004
    ..we observed that treatment with OHT rapidly induces the binding of ERalpha to the E-responsive promoter regions of pS2 and c-myc genes...
  63. ncbi Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities
    Ming Tain Lai
    Department of Biological Chemistry, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
    J Biol Chem 278:22475-81. 2003
    Presenilin-1 (PS1) and presenilin 2 (PS2) are proposed to be transmembrane aspartyl proteases that cleave amyloid precursor protein and Notch...
  64. ncbi Mutant presenilin 2 transgenic mouse: effect on an age-dependent increase of amyloid beta-protein 42 in the brain
    F Oyama
    Department of Neuropathology, Faculty of Medicine, University of Tokyo, Japan
    J Neurochem 71:313-22. 1998
    ..We have generated transgenic mouse lines overexpressing human wild-type or mutant PS2 under transcriptional control of the chicken beta-actin promoter...
  65. pmc Polymorphism in the flanking regions of the PbGP43 gene from the human pathogen Paracoccidioides brasiliensis: search for protein binding sequences and poly(A) cleavage sites
    Antonio A Rocha
    Department of Microbiology, Federal University of Sao Paulo, Sao Paulo, Brazil
    BMC Microbiol 9:277. 2009
    ..It is structurally related to glucanases, however not active, and whose expression varies considerably. We have presently studied polymorphisms in the PbGP43 flanking regions to help understand such variations...
  66. ncbi Immune responses and latent herpesvirus reactivation in spaceflight
    R P Stowe
    Department of Pathology, University of Texas Medical Branch, Galveston 77555 0609, USA
    Aviat Space Environ Med 72:884-91. 2001
    ..In addition, adrenocortical and immune responses of an elderly astronaut (payload specialist-2, PS2; age 77) who flew on this mission were compared with that of younger crewmembers.
  67. ncbi Modulation of the estrogen-regulated proteins cathepsin D and pS2 by opioid agonists in hormone-sensitive breast cancer cell lines (MCF7 and T47D): evidence for an interaction between the two systems
    S Panagiotou
    Laboratoire de Cancerologie Experimentale, CJF INSERM 93 11, Marseille, France
    J Cell Biochem 71:416-28. 1998
    ..To investigate this interaction, we have assayed two estrogen-inducible proteins (pS2 and the lysosomal enzyme cathepsin D) in MCF7 and T47D cells...
  68. ncbi Heterogeneous origin of carbonic anhydrase activity of thylakoid membranes
    L K Ignatova
    Institute of Basic Biological Problems, Russian Academy of Sciences, 142290 Pushchino, Russia
    Biochemistry (Mosc) 71:525-32. 2006
    ..of pea thylakoids as well as thylakoid fragments enriched either in Photosystem 1 (PS1-membranes) or Photosystem 2 (PS2-membranes) were studied...
  69. doi Interactions between the products of the Herpes simplex genome and Alzheimer's disease susceptibility genes: relevance to pathological-signalling cascades
    C J Carter
    Neurochem Int 52:920-34. 2008
    ..A2M), and enters cells via nectin receptors, which are cleaved by gamma-secretase (APH1B, PSEN1, PSEN2, PEN2, NCSTN)...
  70. ncbi The function of presenilin-1 in amyloid beta-peptide generation and brain development
    P Saftig
    Zentrum Biochemie und Molekulare Zellbiologie, Abteilung Biochemie II, , Germany
    Eur Arch Psychiatry Clin Neurosci 249:271-9. 1999
    ....
  71. ncbi Drosophila PS integrins recognize vertebrate vitronectin and function as cell-substratum adhesion receptors in vitro
    S Hirano
    Department of Biophysics, Faculty of Science, Kyoto University, Japan
    Development 113:1007-16. 1991
    ..The other components immunoprecipitated included two alpha chains of Drosophila integrins, PS1 alpha and PS2 alpha, as revealed using specific antibodies to these molecules...
  72. pmc Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1
    Leslie A Rudzinski
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Alzheimer Dis Assoc Disord 22:299-307. 2008
    ..EOFAD) can be caused by mutations in genes for amyloid precursor protein, presenilin 1 (PSEN1), or presenilin 2 (PSEN2). There is considerable phenotypic variability in EOFAD, including some patients with spastic paraparesis...
  73. doi Lead(II)-induced allosteric G-quadruplex DNAzyme as a colorimetric and chemiluminescence sensor for highly sensitive and selective Pb2+ detection
    Tao Li
    State Key Laboratory of Electroanalytical Chemistry, Changchun Institute of Applied Chemistry, Chinese Academy of Sciences, Changchun, Jilin, 130022, People s Republic of China
    Anal Chem 82:1515-20. 2010
    ..Here, we choose a common G-quadruplex DNAzyme named PS2.M to develop a novel Pb(2+) sensor with two detection means: colorimetry and chemiluminescence (CL)...
  74. ncbi Expression of the breast cancer-associated protein pS2 in adenosquamous carcinomas of the gastrointestinal tract
    C Welter
    , , Homburg/Saar, Germany
    Acta Oncol 32:315-7. 1993
    The breast cancer-associated protein pS2 is also present in many human gastrointestinal tumors...
  75. ncbi Alzheimer's disease pathogenesis and therapeutic interventions
    M S Parihar
    Neuroscience Laboratory, Department of Medical Microbiology and Immunology, Southern Illinois University School of Medicine, Springfield, IL 62794 9626, USA
    J Clin Neurosci 11:456-67. 2004
    ..These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). Plaques are formed mostly from the deposition of Abeta, a peptide derived from APP...
  76. ncbi Isolation and characterization of a complementary DNA expressing human U1 small nuclear ribonucleoprotein C polypeptide
    K Yamamoto
    Department of Internal Medicine and Physical Therapy, Faculty of Medicine, University of Tokyo, Japan
    J Immunol 140:311-7. 1988
    A cloned complementary DNA, termed pS2, was isolated from a human fibroblast cDNA library in the bacteriophage expression vector lambda gt11 after screening with a patient's serum containing a high titer of anti-ribonucleoprotein (RNP) ..
  77. ncbi Partial loss of presenilins causes seborrheic keratosis and autoimmune disease in mice
    Jos Tournoy
    Neuronal Cell Biology Laboratory, Center for Human Genetics CB 4, University Hospital, Catholic University of Leuven, Belgium
    Hum Mol Genet 13:1321-31. 2004
    Presenilin (PS1) and (PS2) are the centers of gamma-secretase that release Abeta from APP in Alzheimer's disease (AD). They cleave signaling proteins like Notch and downregulate beta-catenin to modulate Wnt signaling...
  78. pmc Time at surgery during menstrual cycle and menopause affects pS2 but not cathepsin D levels in breast cancer
    P Pujol
    Service de Biologie Cellulaire, , France
    Br J Cancer 79:909-14. 1999
    Many studies have addressed the clinical value of pS2 as a marker of hormone responsiveness and of cathepsin D (Cath D) as a prognostic factor in breast cancer...
  79. pmc Outer membrane proteins of Fibrobacter succinogenes with potential roles in adhesion to cellulose and in cellulose digestion
    Hyun Sik Jun
    Department of Molecular and Cellular Biology, University of Guelph, Guelph, ON N1G 2W1, Canada
    J Bacteriol 189:6806-15. 2007
    ..of binding of intact glucose-grown Fibrobacter succinogenes strain S85 cells and adhesion-defective mutants AD1 and AD4 to crystalline and acid-swollen (amorphous) cellulose showed that strain S85 bound efficiently to both forms of ..
  80. ncbi The Drosophila PS2 antigen is an invertebrate integrin that, like the fibronectin receptor, becomes localized to muscle attachments
    T Bogaert
    MRC Laboratory of Molecular Biology, Cambridge, England
    Cell 51:929-40. 1987
    We establish that the position-specific antigen 2 (PS2), a Drosophila cell surface glycoprotein complex, is an invertebrate member of the vertebrate fibronectin receptor (integrin) family...
  81. ncbi Transcriptional regulation of the human FTZ-F1 gene encoding Ad4BP/SF-1
    K Oba
    The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University, Maidashi Higashi-ku, Fukuoka 812-8582, Japan
    J Biochem 128:517-28. 2000
    ..FTZ-F1 genes, and a possible autoregulatory mechanism of the rFTZ-F1 gene by Ad4BP itself through binding to the Ad4 (or SF-1) site in the first intron...
  82. doi Effect of volatile oil of amomum on expressions of platelet activating factor and mastocarcinoma-related peptide in the gastric membrane of chronic gastritis patients with helicobacter-pylori infection
    Guo dong Huang
    Department of Integrative Medicine, The First Affiliated Hospital of Nanchang University, Nangchang, 330066, China
    Chin J Integr Med 14:23-7. 2008
    To observe the effect of volatile oil of amomum (VOA) on the expressions of mastocarcinoma-related peptide (PS2) and platelet activating factor (PAF) in helicobacter pyloriassociated gastritis (HPG) and to analyze its potential mechanism.
  83. ncbi [Anti-complement activity of polysaccharide B3-PS2 purified from Herba Scutellariae Barbatae]
    Yan Wu
    The Life Science Department of Anqing Normal College, Anqing 246011, China
    Yao Xue Xue Bao 44:615-9. 2009
    The polysaccharide B3-PS2 was extracted and purified from Herba Scutellariae Barbatae through chromatography of DEAE-cellulose and Sephacryl S-300 column. Average molecular weight of B3-PS2 was about 1,100 kD...
  84. ncbi The surface (S)-layer gene cspB of Corynebacterium glutamicum is transcriptionally activated by a LuxR-type regulator and located on a 6 kb genomic island absent from the type strain ATCC 13032
    Nicole Hansmeier
    Lehrstuhl fur Genetik, Fakultat fur Biologie, Universitat Bielefeld, Universitatsstrasse 25, D 33615 Bielefeld, Germany
    Microbiology 152:923-35. 2006
    ..This region includes cspB, the structural gene encoding the S-layer protomer PS2, and six additional coding sequences...
  85. ncbi Additive estrogenic effects of mixtures of frequently used UV filters on pS2-gene transcription in MCF-7 cells
    Marjoke Heneweer
    Institute for Risk Assessment Sciences, Utrecht University, PO Box 80176, 3508 TD Utrecht, The Netherlands
    Toxicol Appl Pharmacol 208:170-7. 2005
    ..In this paper, estrogen-regulated pS2 gene transcription in the human mammary tumor cell line MCF-7 was used as a measure of estrogenicity of four ..
  86. ncbi Co-culture of primary human mammary fibroblasts and MCF-7 cells as an in vitro breast cancer model
    Marjoke Heneweer
    Institute for Risk Assessment Sciences, Utrecht University, PO Box 80176, 3508 TD Utrecht, The Netherlands
    Toxicol Sci 83:257-63. 2005
    ..RNA was isolated and reverse-transcriptase polymerase chain reaction (RT-PCR) was performed on the aromatase and pS2 genes...
  87. ncbi Photoinhibition and recovery of photosynthesis in leaves of Vitis berlandieri and Vitis rupestris
    Massimo Bertamini
    Istituto Agrario di San Michele all Adige, 38010 San Michele all Adige, Italy
    J Plant Physiol 161:203-10. 2004
    ..The potential efficiency of PS2, Fv/Fm declined, Fo increased significantly in leaves of V. berlandieri, while Fo decreased in V. rupestris...
  88. ncbi Response of crypt paneth cells in the small intestine following total-body gamma-irradiation
    N V Gorbunov
    The Henry M Jackson Foundation for the Advancement of Military Medicine, Inc, USA
    Int J Immunopathol Pharmacol 23:1111-23. 2010
    ..we assessed the irradiation response of crypt host-defense Paneth cells by measuring alpha-defensin 4 (AD4) expression and correlated the gathered data with activation of the caspase-1/IL-1β inflammatory signaling cascade...
  89. doi pS2 (TFF1) expression in prostate carcinoma: correlation with steroid receptor status
    Asmaa Gaber Abdou
    Department of Pathology, Faculty of Medicine, Menofiya University, Shebein Elkom, Egypt
    APMIS 116:961-71. 2008
    b>pS2 or TFF1 is a member of the trefoil factor family, which is distributed throughout the gastrointestinal tract in both normal and diseased tissues...
  90. ncbi Effect of steroid receptors, pS2 and cathepsin D on the outcome of elderly breast cancer patients: an exploratory investigation
    D Coradini
    Division of Experimental Oncology C, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy
    Int J Cancer 79:305-11. 1998
    In 83 elderly breast cancer patients, oestrogen and progesterone receptors (ER, PgR), pS2 and cathepsin D (CathD) were evaluated for their possible prognostic role on disease-free survival (DFS)...
  91. ncbi Specific downregulation of presenilin 2 gene expression is prominent during early stages of sporadic late-onset Alzheimer's disease
    P J McMillan
    Department of Psychiatry and Behavioral Sciences, Box 356560, University of Washington, Seattle, WA 98195, USA
    Brain Res Mol Brain Res 78:138-45. 2000
    Mutations in the presenilin genes PS1 and PS2 cause familial Alzheimer's disease (AD)...
  92. ncbi Clinicopathological study of the expression of hsp27, pS2, cathepsin D and metallothionein in primary invasive breast cancer
    E Ioachim
    Department of Pathology, Medical School, University of Ioannina, Greece
    Breast 12:111-9. 2003
    Expression of the hormone-related proteins hsp27, pS2, and also of cathepsin D (CD) and metallothionein (MT) was studied by immunohistochemistry and analyzed against clinical data in breast cancer...
  93. ncbi Effect of a carotene concentrate on the growth of human breast cancer cells and pS2 gene expression
    K Nesaretnam
    Palm Oil Research Institute of Malaysia, 6 Persiaran Institusi, Bandar Baru Bangi, 43000, Kajang, Malaysia
    Toxicology 151:117-26. 2000
    ..The pS2 gene is an estrogen-regulated gene and serves as a marker for the ER+ tumours...
  94. ncbi Profiles of amyloid precursor and presenilin 2-like proteins are correlated during development of the mouse hypothalamus
    C Apert
    INSERM U159, Centre Paul Broca, Paris, France
    J Neuroendocrinol 10:101-9. 1998
    ..APP moeities in mouse hypothalamus and in fetal hypothalamic neurons in culture was compared with a presenilin 2 (PS2) related protein using an antibody developed against the N-terminal part of PS2...
  95. ncbi Biochemical properties of endogenous presenilin 1 and presenilin 2 in cultured human B-lymphocytes
    Lukasz Bojarski
    Laboratory of Neurodegeneration, International Institute of Molecular and Cell Biology, Warsaw, Poland
    Clin Chem Lab Med 45:1273-6. 2007
    Presenilin 1 (PS1) and presenilin 2 (PS2) are membranous proteins involved in the pathology of Alzheimer's disease...
  96. ncbi Estrogen receptor (ER) beta modulates ERalpha-mediated transcriptional activation by altering the recruitment of c-Fos and c-Jun to estrogen-responsive promoters
    Jason Matthews
    Department of Biosciences at Novum, Karolinska Institutet, Huddinge 14157, Sweden
    Mol Endocrinol 20:534-43. 2006
    ..Real-time PCR analysis of mRNA levels of two well-studied estrogen-responsive genes, pS2 and progesterone receptor (PR), showed that the expression levels of both genes were reduced in the presence of ..
  97. ncbi Absence of PS integrins or laminin A affects extracellular adhesion, but not intracellular assembly, of hemiadherens and neuromuscular junctions in Drosophila embryos
    A Prokop
    Department of Zoology, Downing Street, Cambridge, CB2 3EJ, United Kingdom
    Dev Biol 196:58-76. 1998
    ..junctions ultrastructurally in single or double mutant Drosophila embryos lacking PS1 integrin (alphaPS1betaPS), PS2 integrin (alphaPS2betaPS), and/or their potential extracellular ligand laminin A...
  98. pmc Expression of pS2 in prostate cancer correlates with grade and Chromogranin A expression but not with stage
    M Hammad Ather
    Dept of Surgery, Aga Khan University, Karachi, Pakistan
    BMC Urol 4:14. 2004
    ..Particular interest is focused on markers not expressed in normal prostatic tissues. pS2 protein expression has been demonstrated in a range of malignant tissues in an oestrogen-independent pathway...
  99. ncbi Interplay between estrogen response element sequence and ligands controls in vivo binding of estrogen receptor to regulated genes
    Adam J Krieg
    Department of Biochemistry, University of Illinois, Urbana, Illinois 61801 3602, USA
    J Biol Chem 279:5025-34. 2004
    ..estrogen receptor (ER) to promoters, we analyzed in vivo interaction of liganded ER with the imperfect ERE in the pS2 gene and the composite estrogen-responsive unit (ERU) in the proteinase inhibitor 9 (PI-9) gene...
  100. doi Recruitment of coactivator glucocorticoid receptor interacting protein 1 to an estrogen receptor transcription complex is regulated by the 3',5'-cyclic adenosine 5'-monophosphate-dependent protein kinase
    Ingvild S Fenne
    Institute of Medicine, Section for Endocrinology, University of Bergen, Bergen, Norway
    Endocrinology 149:4336-45. 2008
    ..cAMP/PKA initiated a rapid recruitment of GRIP1 to the endogenous estrogen receptor (ER)-alpha target pS2 gene promoter...
  101. pmc PS2 in breast cancer--alternative or complementary tool to steroid receptor status? Evaluation of 446 cases
    M Gion
    Center for the Study of Biological Markers of Malignancy, General Regional Hospital, Venice, Italy
    Br J Cancer 68:374-9. 1993
    The oestrogen induced pS2 protein was measured in the cytosol of 446 breast cancer samples by an immunoradiometric assay. The relationships between pS2 and several clinical and biological parameters were evaluated...

Research Grants62

  1. Alzheimre's disease antiamyloid neuroprotective tmt
    Bala Manyam; Fiscal Year: 2003
    ..abstract_text> ..
  2. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2003
    ..are caused by mutations in the highly related genes presenilin-1 (PS1) and presenilin-2 (PS1) and presinilin-2 (PS2) which encode what are predicted to be integral membrane proteins with six or eight membrane spanning domains...
  3. Next Generation Mendelian Genetics in Familial Alzheimer Disease
    Zoran Brkanac; Fiscal Year: 2013
    ..Mutations in the APP, PSEN1 or PSEN2 genes are involved in minority of AD families and are characterized with early disease onset...
  4. Identifying Alzheimer's disease genes using genomic and family data
    ELIZABETH MARCHANI BLUE; Fiscal Year: 2012
    ..As a postdoctoral fellow, she has recently published evidence that several genes in addition to APP, PSEN1, PSEN2, and APOE influence Alzheimer's disease...
  5. Identifying Alzheimer's disease genes using genomic and family data
    ELIZABETH MARCHANI BLUE; Fiscal Year: 2013
    ..As a postdoctoral fellow, she has recently published evidence that several genes in addition to APP, PSEN1, PSEN2, and APOE influence Alzheimer's disease...
  6. Mutational Cloning in Familial Dementia and Alzheimers Disease
    Wendy H Raskind; Fiscal Year: 2010
    ..been in the forefront of this effort and have had a major role in discovery of multiple genes, including PSEN1, PSEN2 and MAPT...
  7. Employing Familial AD Induced Pluripotent Stem Cells to Study Neurodegeneration
    Suman Jayadev; Fiscal Year: 2013
    ..We have demonstrated that presenilin 2 (PSEN2) deficiency is associated with an exaggerated pro-inflammatory response in microglia and that the fAD associated ..
  8. Presenilin 2 and Neuroinflammation
    Suman Jayadev; Fiscal Year: 2013
    ..with mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2)...
  9. PS1 regulates processing and signaling of ephrinB/EphB
    Nikolaos K Robakis; Fiscal Year: 2013
    ..We will use the same technology we employed for PS1 to explore the neuroprotective activities of presenilin 2 (PS2) and the amyloid precursor protein (APP)...
  10. Insulin/Insulin receptor modulate APP phosphorylation and dementia
    LUCIANO D'ADAMIO; Fiscal Year: 2013
    ..In fact, mutations in APP itself and in two subunits of an enzyme that regulates APP processing, PSEN1 and PSEN2, cause Familial Alzheimer's disease (FAD)...
  11. An Integrated Genomic Approach to Alzheimer Disease
    Margaret Pericak Vance; Fiscal Year: 2006
    ..This approach integrates our family resources and our statistical and molecular expertise to identify the remaining genes in AD. ..
  12. Transcriptional Regulation of Estrogen Receptor (ER) by CARM1
    Wei Xu; Fiscal Year: 2012
    ..CARM1 methylates histone H3 at R17, and this methylation correlates with activation of the ER-target gene pS2. Loss of CARM1 leads to abrogation of the estrogen response and reduction in expression of some ER-target genes...
  13. The Role of Presenilin in Hidradenitis Suppurativa
    Airong Li; Fiscal Year: 2013
    ..Genetics plays a significant role in the etiology of HS. Presenilins (PSEN1 and PSEN2) encodes homologous PS1 and PS2 proteins, which are components of [unreadable]- secretase complex and responsible ..
  14. Determinants of Notch-Sparing Gamma-Secretase Inhibition
    Michael S Wolfe; Fiscal Year: 2013
    ..b>PS2 ?-secretase? The identification of substrate and enzyme determinants of APP/Notch selectivity for these compounds ..
  15. Modifiers of Beta-Amyloid Metabolism and Deposition
    Bruce T Lamb; Fiscal Year: 2013
    ..2) Identify and characterize genetic loci that regulate A[unreadable] deposition. 3) Characterize genetic loci responsible for diet-induced alterations in A[unreadable] metabolism and deposition. ..
  16. Biology of Breast Cancers Arising in Older Women
    Christopher Benz; Fiscal Year: 2007
    ..g. PR, pS2, Bcl2) and associated with enhanced oxidant stress-activated signaling (P-Erk5) and transcription factor ..
  17. Plasma AB as a Surrogate Genetic Marker for LOAD
    Steven G Younkin; Fiscal Year: 2012
    ..in conserved regions of major genes in the AB processing pathway (SORL1, APP, IDE, MME, ECE1, PLAU, BACE1, PSEN1, PSEN2, and VR22), and (3) evaluate the functional effects of the susceptibility alleles identified in specific aim 2...
  18. Impact of Presenilin 2 Mutation and Deficiency on Microglial Function
    Suman Jayadev; Fiscal Year: 2010
    ..AD) have revealed three important AD genes, Amyloid Precursor Protein (APP), Presenilin 1 (PS1) and Presenilin 2 (PS2), in which mutations lead to autosomal dominant AD with nearly complete penetrance...
  19. The Role of Presenilins in HIV Associated Dementia
    Suman Jayadev; Fiscal Year: 2010
    ..Mutations in the genes coding for the presenilin proteins (PS), presenilin 1 (PS1) and presenilin 2 (PS2) cause familial AD, and thus PS are a natural focus of study in neurodegenerative disease...
  20. Presenilin dysfunction in the brain
    Raymond J Kelleher; Fiscal Year: 2013
    ..Mutations in presenilin 1 (PS1) and presenilin 2 (PS2) account for ~90% of all identified causative mutations in familial AD (FAD), highlighting the importance of ..
  21. Function of intramembrane aspartic protease
    Evgeny I Rogaev; Fiscal Year: 2012
    ..Mutations in two homologous presenilin genes, PS1 and PS2, are the cause of familial Alzheimer's disease (AD)...
  22. Neurodegeneration and Synaptic Transmission in Aging
    Jie Shen; Fiscal Year: 2010
    ..Mutations in the amyloid precursor protein (APP) and presenilins (PS1 and PS2) are the major causes of familial AD (FAD);thus, elucidation of the pathogenic mechanisms triggered by these ..
  23. Trefoil Factors in GI Cancer Biology
    Steven H Itzkowitz; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): The trefoil factor family consists of 3 proteins: pS2/TFF1, spasmolytic polypeptide (SP/TFF2) and intestinal trefoil factor (ITF/TFF3), which play an essential role in the homeostasis of ..
  24. Role of Presenilin Associated Protein (PSAP) in Apoptosis and in Abeta Formation
    Xuemin Xu; Fiscal Year: 2012
    ..unreadable]-amyloid peptide) formation have been detected in mitochondria, and presenilin 1 (PS1) and PS2 have been implicated in apoptosis...
  25. Regeneration of Nucleus Pulposus by Tissue Engineering
    Irving M Shapiro; Fiscal Year: 2013
    ..We will inject rabbit intervertebral discs with lentivirus encoding psen1/psen2-SiRNA to suppress expression of endogenous notch activity...
  26. Presenilin Variants in the Modulation of Hippocampal Neurogenesis
    Sangram S Sisodia; Fiscal Year: 2013
    ..Inheritance of mutated PSEN1 and PSEN2 genes, encoding presenilin 1 and presenilin 2 (PS1 and PS2) variants, respectively, cause early-onset, autosomal ..
  27. The Role of Presenilin-2 in the Control and Function of Polycystin-1
    NATASHA CELINE MONINGKA; Fiscal Year: 2013
    ..Therefore, the goal of this application is to explore the novel role of presenilin-2 (PSEN2) in the control of PC1 signaling...
  28. Oral, replicating Ad4-HIV vaccine development &evaluation in NHP challenge model
    JONATHAN FOWLER SMITH; Fiscal Year: 2013
    ..A promising approach is the use of the Adenovirus serotype 4 (Ad4) as a vaccine delivery vehicle...
  29. Presenilins and neuronal calcium signaling
    ILYA B BEZPROZVANNY; Fiscal Year: 2010
    ..proteins localized to endoplasmic reticulum (ER), Missense mutations in presenilin-1 (PS1) and presenilin-2 (PS2) account for 40% of FAD cases...
  30. Dominantly Inherited Alzheimer Network
    John Morris; Fiscal Year: 2010
    ..who are biological adult children of a parent with a known causative mutation for AD in the APP, PSEN1, or PSEN2 genes in which the individuals are evaluated in a uniform manner at entry and longitudinally thereafter with ..
  31. Ad4 vectored HIV-Env vaccines with improved immunogenicity
    TIMOTHY MAYALL; Fiscal Year: 2010
    ..A promising approach is the use of the Adenovirus (serotype 4) as a vaccine delivery vehicle. The Ad4 virus was a component in the US Military adenovirus vaccine which was formulated for administration in an oral ..
  32. New Reagents for the Synthesis of Phosphorodithioate-Modified 2'-O-Methyl RNAs
    Xianbin Yang; Fiscal Year: 2011
    ..thiophosphoramidites (2'-OMe-thioamidites) to enable synthesis of phosphorodithioate 2'-OMe-RNA (PS2-2'- OMe-RNA)...
  33. New Building Blocks for the Synthesis of Modified RNAs
    Xianbin Yang; Fiscal Year: 2012
    ..thiophosphoramidites (2'-F-thioamidites) to enable synthesis of phosphorodithioate 2'-F-RNA (PS2-2'-F- RNA)...
  34. IDENTIFYING RARE VARIANTS THAT INCREASE RISK FOR ALZHEIMER'S DISEASE
    Carlos Cruchaga; Fiscal Year: 2013
    ..whole-exomes from 27 families with three or more affected individuals each and no mutations in APP, PSEN1, PSEN2, MAPT, GRN and C9ORF72. Sequencing data for additional 20 families will be included...
  35. PS1 mediates the neuroprotective functions of the ephrinB/EphB system
    Nikolaos K Robakis; Fiscal Year: 2013
    ..Finally, we will ask whether PS2, a homologue of PS1 also involved in FAD, may also be involved in the ephrinB neuroprotection.
  36. Cell Biology of Presenilin 1 and Associated Proteins
    Gopal Thinakaran; Fiscal Year: 2012
    ..gamma-secretase is a multimeric protein complex made of four main subunits, namely PS1 (or PS2), nicastrin, PEN2 and APH-1, and a few regulatory subunits including CD147 and p23 (also referred to asTMP21)...
  37. Dissecting APP-mediated memory deficits in Danish dementia knock-in mice
    LUCIANO D'ADAMIO; Fiscal Year: 2013
    ..In fact, mutations in APP itself and in two subunits of an enzyme that regulates APP processing, PSEN1 and PSEN2, cause Familial Alzheimer's disease (FAD)...
  38. Generation and Characterization of Alzheimer Brain Cells
    SCOTT ALLEN NOGGLE; Fiscal Year: 2012
    ..3% of all of AD is due to genetic mutations in either amyloid precursor protein (APP), or presenilin 1 or 2 (PS1, PS2)...
  39. Structure/Function Studies of the Integrin
    Thomas A Bunch; Fiscal Year: 2010
    ..been proposed to be a common component of integrin activation, but regulation of ligand affinity for Drosophila ?PS2?PS is talin independent...
  40. New Reagents for Synthesis of High Potency siRNA
    Xianbin Yang; Fiscal Year: 2011
    ..In Phase I of this project, we demonstrated proof of principle for a new approach using phosphorodithioate siRNAs (PS2- siRNAs), prepared using novel ribonucleoside thiophosphoramidite reagents (R-thioamidites)...
  41. Replicating Ad4-HIV vaccine development based on improved HIV Env and GBV-C E2
    JONATHAN FOWLER SMITH; Fiscal Year: 2013
    ..A promising approach is the use of the Adenovirus serotype 4 (Ad4) as a vaccine delivery vehicle...
  42. DOMINANTLY INHERITED ALZHEIMER NETWORK TRIAL: AN OPPORTUNITY TO PREVENT DEMENTIA
    Randall J Bateman; Fiscal Year: 2013
    ..with a known causative mutation of AD in the amyloid precursor protein (APP), presenilin 1 (PS1), or presenilin 2 (PS2) genes...
  43. Optimize RNA-aptamer for Biomarker Molecule CD30
    Xianbin Yang; Fiscal Year: 2009
    ..the two non-bridging oxygens with sulfurs at several linkage positions will result in a phosphorodithioated (PS2) RNA aptamer (PS2- aptamer) that will increase the RNA aptamer's stability, cell-binding affinity and ..
  44. Human induced neuronal stem cell models of familial Alzheimer's disease
    Asa Abeliovich; Fiscal Year: 2013
    ..is on familial AD (FAD)-associated disease with defined genetic lesions in presenilin-1 (PSEN1) or presenilin-2 (PSEN2)...
  45. A gene expression study of regional vulnerability in Alzheimer's disease
    Jeremy Miller; Fiscal Year: 2009
    ..underlying disease-causing genes are expressed ubiquitously? In the case of Alzheimer's disease (AD), PSEN1, PSEN2, and APP mutations lead to a typical pattern of neurodegeneration in most cases, starting with degeneration of CA1 ..
  46. Estrogen Regulated Genes and Neural Protection
    Cheryl Sisk; Fiscal Year: 2001
    ..These genes encode transthyretin precursor (TTR), presenilin 1 (PS1), and presenilin 2 (PS2)...
  47. Functional Studies of Calmyrin
    MERVYN MONTEIRO; Fiscal Year: 2009
    ..calcium-binding protein that interacts with the Alzheimer's disease related protein, presenilin-2 (PS2)...
  48. The Effect of Black Cohosh Extract on the Human Breast
    Edward Sauter; Fiscal Year: 2004
    ..in estrogenic stimulation of the breast as measured by changes in nipple aspirate fluid (NAF) levels of estradiol, pS2, follicle stimulating hormone (FSH), leutenizing hormone (LH) and prostate-specific antigen (PSA), as well as NAF ..
  49. Regulation of APP Processing by Presenilins
    Benjamin Wolozin; Fiscal Year: 2004
    ..The two homologous proteins presenilin 1 and 2 (PS1 and PS2) appear to play an important role in the generation of beta- amyloid from its parent protein, amyloid precursor ..
  50. Presenilin 1-regulated neurogenesis & its functional consequences
    Ya Ping Tang; Fiscal Year: 2007
    Presenilin 1 (PS1) and PS2 play an essential role in neurogenesis during development...
  51. Regulation of calcium signaling pathways by presenilins
    Frank LaFerla; Fiscal Year: 2005
    ..in certain earlyonset, autosomal dominant familial AD cases that are caused by mutations in the presenilin (PS1, PS2) genes. Mutations in the presenilin genes cause gain-of-function effects that lead to AD...
  52. CHARACTERIZATION GAMMA-SEC ACTIVITY CELL FREE SYSTEM
    David Hoke; Fiscal Year: 2004
    ..Three genes have been linked to early-onset AD. These genes are presenilin 1 (PS1), presenilin 2 (PS2), and APP itself...
  53. Task Order 02 - Production of AD4 Recombinat HIV Clade C Vaccine.
    Jon Mirsalis; Fiscal Year: 2013
    ..abstract_text> ..
  54. Presenilins, Apoptosis, and Cortical Degeneration
    JOE TSIEN; Fiscal Year: 2009
    ..patients as early as their 30s;Those patients, typically carrying mutations in presenilin-1 (PS1) and presenilin-2 (PS2), exhibit accelerated onset of memory loss and dementia, progressive impairments in problem solving, language, and ..
  55. A biosensor to detect ERE-binding proteins in cancer
    JUDITH ERB; Fiscal Year: 2004
    ..which have been associated with prognosis for patient response to Tamoxifen treatment, such as cathepsin D and pS2, and genes for transcription factors h-fos and jun...
  56. ACQUISTION OF A VAX COMPUTER SYSTEM
    Larry Simpson; Fiscal Year: 1991
    ..of the VAX 11/750, which is connected by Decnet and Ethernet to all the major computer networks, and 12 IBM PS2-50 microcomputers connected by direct lines to the VAX...
  57. Physiology & Pathophysiology of PS1 & FAD-linked Mutants
    Sangram Sisodia; Fiscal Year: 2006
    Autosomal dominant inheritance of mutations in PS1 and PS2 cause early-onset familial forms of AD...
  58. Nicastrin and Presenilin-dependent gamma-secretase
    Philip Wong; Fiscal Year: 2007
    ..The presenilins (PS1 and PS2), which when mutated cause familial AD, are important for the intramembraneous proteolysis of several proteins, ..
  59. FUNCTIONAL ANALYSIS OF AD-LINKED PRESENILIN 2 MUTATIONS
    Wilma Wasco; Fiscal Year: 1999
    ..recently been demonstrated to be caused by mutations in two novel genes termed presenilin 1 (PS1) and presenilin 2 (PS2)...
  60. New Reagents for Synthesizing Nuclease-resistant siRNA
    Xianbin Yang; Fiscal Year: 2009
    ..thiophosphoramidite (ABz, CBz, GIbu and U) reagents that will enable synthesis of phosphorodithioate siRNA (PS2-siRNA)...
  61. Defining presenilin-beta-catenin pathway in vivo
    Hui Zheng; Fiscal Year: 2006
    DESCRIPTION (provided by applicant): Mutations in presenilin (PS1 and PS2) are linked to early onset of familial Alzheimer's disease (FAD)...
  62. BETA AMYLOID DERIVATION IN BRAIN IN ALZHEIMERS DISEASE
    NAZNEEN DEWJI; Fiscal Year: 2001
    ..protein, and the more recently identified closely homologous seven-membrane spanning integral proteins S182 and STM2, together account for all early-onset familial Alzheimer's disease...