J D Buxbaum

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. doi An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene
    Nicolas Ramoz
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1152-8. 2008
  2. ncbi Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brain
    Jae Kwang Jin
    Ilsong Institute of Life Science, Hallym University, Anyang, Kyonggi do 431 060, Korea
    Neuroreport 16:451-5. 2005
  3. pmc Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene
    Weiguo Shu
    Molecular Cardiology Research Center, Department of Medicine, University of Pennsylvania Medical Center, 956 Biomedical Research Building II III, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 102:9643-8. 2005
  4. pmc Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity
    J D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY, 10029, USA
    Am J Hum Genet 68:1514-20. 2001
  5. ncbi Pharmacological concentrations of the HMG-CoA reductase inhibitor lovastatin decrease the formation of the Alzheimer beta-amyloid peptide in vitro and in patients
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Front Biosci 7:a50-9. 2002
  6. ncbi Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease
    J D Buxbaum
    Department of Psychiatry, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1230, New York, NY 10029, USA
    Neurosci Lett 294:135-8. 2000
  7. ncbi Evidence that tumor necrosis factor alpha converting enzyme is involved in regulated alpha-secretase cleavage of the Alzheimer amyloid protein precursor
    J D Buxbaum
    Departments of Psychiatry and Neurobiology, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Biol Chem 273:27765-7. 1998
  8. 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
  9. ncbi BACE (beta-secretase) modulates the processing of APLP2 in vivo
    L Pastorino
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Cell Neurosci 25:642-9. 2004
  10. pmc The Alzheimer amyloid precursor protein (APP) and FE65, an APP-binding protein, regulate cell movement
    S L Sabo
    Laboratory of Molecular and Cellular Neuroscience and the Zachary and Elizabeth M Fisher Center, The Rockefeller University, New York, New York 10021, USA
    J Cell Biol 153:1403-14. 2001

Collaborators

Detail Information

Publications60

  1. doi An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene
    Nicolas Ramoz
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1152-8. 2008
    ..In summary, we have observed further evidence for linkage and association between autism and loci within the 2q24-q33 region, including at STK39, a novel candidate gene for autism...
  2. ncbi Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brain
    Jae Kwang Jin
    Ilsong Institute of Life Science, Hallym University, Anyang, Kyonggi do 431 060, Korea
    Neuroreport 16:451-5. 2005
    ..Our findings suggest that calsenilin overexpression in both neurons and reactive astrocytes may play an important role in apoptosis and in Alzheimer's disease pathology...
  3. pmc Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene
    Weiguo Shu
    Molecular Cardiology Research Center, Department of Medicine, University of Pennsylvania Medical Center, 956 Biomedical Research Building II III, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 102:9643-8. 2005
    ..Our findings support a role for Foxp2 in cerebellar development and in a developmental process that subsumes social communication functions in diverse organisms...
  4. pmc Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity
    J D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY, 10029, USA
    Am J Hum Genet 68:1514-20. 2001
    ....
  5. ncbi Pharmacological concentrations of the HMG-CoA reductase inhibitor lovastatin decrease the formation of the Alzheimer beta-amyloid peptide in vitro and in patients
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Front Biosci 7:a50-9. 2002
    ..05). Our results suggest a mechanism by which hypercholesterolemia may increase risk for AD and indicate that lovastatin reduces Abeta formation and may thereby be effective in delaying the onset and/or slowing the progression of AD...
  6. ncbi Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease
    J D Buxbaum
    Department of Psychiatry, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1230, New York, NY 10029, USA
    Neurosci Lett 294:135-8. 2000
    ..This CA repeat will be useful for linkage and linkage disequilibrium studies to determine whether calsenilin variants contribute to risk in other diseases...
  7. ncbi Evidence that tumor necrosis factor alpha converting enzyme is involved in regulated alpha-secretase cleavage of the Alzheimer amyloid protein precursor
    J D Buxbaum
    Departments of Psychiatry and Neurobiology, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Biol Chem 273:27765-7. 1998
    ..Furthermore, we show that inhibiting this enzyme affects both APP secretion and Abeta formation in cultured cells...
  8. 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
    ..Further characterization of calsenilin may lead to an understanding of the normal role of the presenilins and of the role of the presenilins in Alzheimer disease...
  9. ncbi BACE (beta-secretase) modulates the processing of APLP2 in vivo
    L Pastorino
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Cell Neurosci 25:642-9. 2004
    ..Overexpression of BACE in cultured cells led to increased APLP2 processing. Our results strongly suggest that BACE is a neuronal protein that modulates the processing of both APP and APLP2...
  10. pmc The Alzheimer amyloid precursor protein (APP) and FE65, an APP-binding protein, regulate cell movement
    S L Sabo
    Laboratory of Molecular and Cellular Neuroscience and the Zachary and Elizabeth M Fisher Center, The Rockefeller University, New York, New York 10021, USA
    J Cell Biol 153:1403-14. 2001
    ..These data are consistent with a role for FE65 and APP, possibly in a Mena-containing macromolecular complex, in regulation of actin-based motility...
  11. ncbi Association between a GABRB3 polymorphism and autism
    J D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Psychiatry 7:311-6. 2002
    ..These findings support a role for genetic variants within the GABA receptor gene complex in 15q11-13 in autistic disorder...
  12. ncbi Correlation between Abetax-40-, Abetax-42-, and Abetax-43-containing amyloid plaques and cognitive decline
    S Parvathy
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1230, New York, NY 10029, USA
    Arch Neurol 58:2025-32. 2001
    ....
  13. ncbi Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling
    C Lilliehook
    Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mol Cell Neurosci 19:552-9. 2002
    ..Taken together, these data suggest that calsenilin causes cells to be more susceptible to apoptotic triggers, possibly by altering calcium dynamics...
  14. ncbi Regulation of beta-amyloid secretion by FE65, an amyloid protein precursor-binding protein
    S L Sabo
    Laboratory of Molecular and Cellular Neuroscience and Zachary and Elizabeth M Fisher Center, The Rockefeller University, New York, New York 10021, USA
    J Biol Chem 274:7952-7. 1999
    ....
  15. ncbi Neuronal cyclooxygenase 2 expression in the hippocampal formation as a function of the clinical progression of Alzheimer disease
    L Ho
    Neuroinflammation Research Laboratories, Department of Psychiatry, Box 1229, Mount Sinai Medical Center, One Gustave L. Levy Place, New York, NY 10029, USA
    Arch Neurol 58:487-92. 2001
    ..COX-2 signal was increased in all 3 regions examined among cases characterized by severe dementia. CONCLUSION: Neuronal COX-2 content in subsets of hippocampal pyramidal neurons may be an indicator of progression of dementia in early AD...
  16. ncbi Alzheimer amyloid protein precursor is localized in nerve terminal preparations to Rab5-containing vesicular organelles distinct from those implicated in the synaptic vesicle pathway
    A F Ikin
    Laboratory of Molecular and Cellular Neurosciences and Zachary and Elizabeth M Fisher Center, The Rockefeller University, New York, New York 10021, USA
    J Biol Chem 271:31783-6. 1996
    ..Thus, it appears that nerve terminal APP is contained predominantly in large vesicular organelles, distinct from synaptic vesicles and from the synaptic vesicle recycling pathway...
  17. ncbi Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19
    J D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Psychiatry 9:144-50. 2004
    ..The data suggest that there is an autism susceptibility gene on chromosome 1 and provide further support for the presence of autism susceptibility genes on chromosomes 6 and 19...
  18. pmc Increased expression of receptor phosphotyrosine phosphatase-β/ζ is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes
    N Takahashi
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Transl Psychiatry 1:e8. 2011
    ..Furthermore, our results implicate RPTPβ/ζ as a therapeutic target in schizophrenia...
  19. ncbi Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene
    J D Buxbaum
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Psychiatry 13:162-72. 2008
    ..Furthermore, the data indicate a role for RPTPbeta in the modulation of ERBB4 signaling that may in turn provide further support for an important role of neuregulin/ERBB4 signaling in the molecular basis of schizophrenia...
  20. pmc No obvious abnormality in mice deficient in receptor protein tyrosine phosphatase beta
    S Harroch
    Department of Pharmacology and The Skirball Institute, New York University Medical Center, New York, New York 10016, USA
    Mol Cell Biol 20:7706-15. 2000
    ....
  21. ncbi Tau protein abnormalities associated with the progression of alzheimer disease type dementia
    V Haroutunian
    Department of Psychiatry, The Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, United States
    Neurobiol Aging 28:1-7. 2007
    ....
  22. pmc Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model
    J W Steele
    Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA
    Mol Psychiatry 18:889-97. 2013
    ....
  23. ncbi The genetics of autism spectrum disorders
    Dorothy E Grice
    Department of Psychiatry, UMDNJ New Jersey Medical School, Newark, NJ 07103, USA
    Neuromolecular Med 8:451-60. 2006
    ..Analysis of additional larger samples and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs...
  24. pmc Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia
    Lyudmila Georgieva
    Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom
    Proc Natl Acad Sci U S A 103:12469-74. 2006
    ..Our data provide strong convergent evidence that variation in OLIG2 confers susceptibility to schizophrenia alone and as part of a network of genes implicated in oligodendrocyte function...
  25. ncbi Calsenilin interacts with transcriptional co-repressor C-terminal binding protein(s)
    Nikhat F Zaidi
    Department of Neurology, Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease and Harvard Medical School, Charlestown, Massachusetts 02129, USA
    J Neurochem 98:1290-301. 2006
    ..Finally, we demonstrated that calsenilin and CtBP are present in synaptic vesicles and can interact in vivo...
  26. ncbi Downstream regulatory element antagonistic modulator regulates islet prodynorphin expression
    David A Jacobson
    Department of Medicine, University of Chicago, IL 60637, USA
    Am J Physiol Endocrinol Metab 291:E587-95. 2006
    ..The data provide a molecular basis for opiate stimulation of glucagon secretion first observed over 25 years ago...
  27. ncbi Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism
    Nicolas Ramoz
    Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Seaver Autism Research Center, Mount Sinai School of Medicine, New York, New York 10029, USA
    Biol Psychiatry 60:186-91. 2006
    ..Specific variants of the 5-HTT gene, SLC6A4, especially the insertion-deletion 5-HTTLPR promoter locus, have been found to modulate its expression and transporter function...
  28. ncbi Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophrenia
    Timothy R Peirce
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, Wales
    Arch Gen Psychiatry 63:18-24. 2006
    ..However, it is unclear whether the observed changes in the schizophrenic brain are primary or secondary...
  29. ncbi Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors
    Takeshi Sakurai
    Departments of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Psychiatr Genet 16:251-7. 2006
    ....
  30. ncbi Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  31. pmc A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching
    Annat F Ikin
    Laboratory of Molecular Neuropsychiatry, Departments of Psychiatry and Neurobiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Cell Neurosci 35:57-63. 2007
    ..FE65 mutants did not alter the localization of either APP or FE65 in axonal growth cones, suggesting that the effects on neurite outgrowth are achieved by alterations in local complex formation within the axonal growth cone...
  32. pmc Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 144:484-91. 2007
    ..Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes...
  33. ncbi Elevated plasma cholesterol does not affect brain Abeta in mice lacking the low-density lipoprotein receptor
    Gregory A Elder
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Neurochem 102:1220-31. 2007
    ..ApoE protein levels in brain were, however, elevated, in LDLR-/- mice by post-transcriptional mechanisms. Collectively, these studies argue that plasma cholesterol levels do not normally regulate production of brain Abeta...
  34. ncbi Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism
    Jeremy M Silverman
    Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet B Neuropsychiatr Genet 147:408-10. 2008
    ..No other significant differences were observed. The rs2056202 polymorphism may be associated with levels of routines and rituals in autism and related disorders...
  35. pmc Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, USA
    BMC Med Genet 8:68. 2007
    ..Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly...
  36. ncbi Family-based association study of TPH1 and TPH2 polymorphisms in autism
    Nicolas Ramoz
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet B Neuropsychiatr Genet 141:861-7. 2006
    ..Thus, it appears unlikely that the TPH1 and TPH2 genes play a significant role in the susceptibility to autism or to autism endophenotypes including sOCB and SSB...
  37. pmc Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays
    Malek Faham
    ParAllele BioScience, 7300 Shoreline Court, South San Francisco, CA 94080, USA
    Proc Natl Acad Sci U S A 102:14717-22. 2005
    ..We believe this approach can be scaled up to allow sequence comparison in the whole-genome coding regions among large sets of cases and controls at a reasonable cost in the near future...
  38. ncbi Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family
    Irina N Bespalova
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Psychiatr Genet 15:205-10. 2005
    ....
  39. ncbi Intracellular calcium modulates the nuclear translocation of calsenilin
    Nikhat F Zaidi
    Genetics and Aging Research Unit, Department of Neurology, Massachusetts General Hospital Institute for Neurodegenerative Disease and Harvard Medical School, Charlestown, Massachusetts, USA
    J Neurochem 89:593-601. 2004
    ..Taken together, these findings indicate that the level of intracellular calcium can modulate the nuclear translocation of calsenilin and that this process does not involve the direct binding of calcium to calsenilin...
  40. ncbi Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism
    Nicolas Ramoz
    Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Psychiatry 161:662-9. 2004
    ..In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region...
  41. ncbi Lack of association between the levels of the low-density lipoprotein receptor-related protein (LRP) and either Alzheimer dementia or LRP exon 3 genotype
    Mirsada Causevic
    Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Neuropathol Exp Neurol 62:999-1005. 2003
    ..We found no correlation between LRP levels and either presence of the disease or cognitive decline. In addition, we found no correlation between the LRP exon 3 polymorphism and either AD or LRP levels...
  42. ncbi Altered Abeta formation and long-term potentiation in a calsenilin knock-out
    Christina Lilliehook
    Laboratory of Molecular Neuropsychiatry and Department of Psychiatry, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    J Neurosci 23:9097-106. 2003
    ..The data presented here show that lack of calsenilin affects both Abeta formation and the A-type current. We suggest that these effects are separate events, caused by a common mechanism possibly involving protein transport...
  43. ncbi Disease susceptibility genes for autism
    Irina N Bespalova
    Seaver Autism Research Center, Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Ann Med 35:274-81. 2003
    ..Several genes have been proposed to play a role in susceptibility to autism, and this paper will overview those genes and their potential role in the disorder...
  44. ncbi The amyloid precursor protein and its regulatory protein, FE65, in growth cones and synapses in vitro and in vivo
    Shasta L Sabo
    Laboratory of Molecular and Cellular Neuroscience and the Zachary and Elizabeth M Fisher Center, The Rockefeller University, New York, New York 10021, USA
    J Neurosci 23:5407-15. 2003
    ..Our data are consistent with a role for the APP/FE65 complex in regulation of actin-based membrane motility in neurons, which could be important for highly dynamic processes such as neurite growth and synapse modification...
  45. ncbi BACE1 and BACE2 in pathologic and normal human muscle
    Gaetano Vattemi
    USC Neuromuscular Center, Department of Neurology, University of Southern California Keck School of Medicine, Good Samaritan Hospital, Los Angeles 90017 1912, USA
    Exp Neurol 179:150-8. 2003
    ..Accordingly, BACE1 and BACE2 participate in normal and abnormal processes of human muscle, suggesting that their functions are broader than previously thought...
  46. ncbi The carboxyl-terminus of BACE contains a sorting signal that regulates BACE trafficking but not the formation of total A(beta)
    Lucia Pastorino
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Cell Neurosci 19:175-85. 2002
    ..Mutating either the leucines or the serine did not alter the secretion of A(beta). Our data are consistent with a role for the cytoplasmic domain in regulating BACE trafficking and localization...
  47. ncbi Symptom domains in autism and related conditions: evidence for familiality
    Jeremy M Silverman
    Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet 114:64-73. 2002
    ..Making distinctions among families by the severity of these features may be useful for identifying more genetically homogeneous subgroups in studies targeted at genes for specific autism-related symptom domains...
  48. ncbi Familial symptom domains in monozygotic siblings with autism
    Alexander Kolevzon
    Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet B Neuropsychiatr Genet 129:76-81. 2004
    ....
  49. ncbi Atorvastatin-induced activation of Alzheimer's alpha secretase is resistant to standard inhibitors of protein phosphorylation-regulated ectodomain shedding
    S Parvathy
    Farber Institute for Neurosciences of Thomas Jefferson University, Jefferson Hospital for Neuroscience, Philadelphia, Pennsylvania 19107, USA
    J Neurochem 90:1005-10. 2004
    ..A systematic evaluation of the possible role of these protein kinases in statin-regulated APP ectodomain shedding is underway...
  50. ncbi A role for calsenilin and related proteins in multiple aspects of neuronal function
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Departments of Psychiatry and Neurobiology, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1668, New York, NY 10029, USA
    Biochem Biophys Res Commun 322:1140-4. 2004
    ..Further functional dissection of this family of proteins will provide insight into numerous aspects of neuronal function and will illuminate the role of the calsenilin family of proteins in disease...
  51. ncbi Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes
    Nicholas J Bray
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Hum Mol Genet 13:2885-92. 2004
    ..02). Our data indicate that, in human brain, most of the cis-acting variance in APOE expression is accounted for by the epsilon4 haplotype, but there are additional, small, cis-acting influences associated with promoter genotype...
  52. ncbi Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton
    Tara L Lauriat
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Brain Res 1121:1-11. 2006
    ..Therefore, KIAA0513 is likely to be involved in signaling pathways related to these processes...
  53. doi Increased locomotor activity in mice lacking the low-density lipoprotein receptor
    Gregory A Elder
    Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Behav Brain Res 191:256-65. 2008
    ..Collectively these studies suggest that while LDLR-/- mice exhibit no major developmental defects, LDLR nevertheless plays a significant role in modulating locomotor behavior in the adult...
  54. ncbi A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions
    Sheila Harroch
    Department of Pharmacology, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    Nat Genet 32:411-4. 2002
    ..These results support a role for Ptprz in oligodendrocyte survival and in recovery from demyelinating disease...
  55. ncbi Molecular and cellular evidence for an oligodendrocyte abnormality in schizophrenia
    Patrick R Hof
    Fishberg Research Center for Neurobiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Neurochem Res 27:1193-200. 2002
    ..Therapies modulating oligodendrocyte survival and differentiation may therefore be beneficial in schizophrenia...
  56. ncbi Autism and ultraconserved non-coding sequence on chromosome 7q
    Esther Richler
    Department of Psychiatry, Mount Sinai School of Medicine, New York, USA
    Psychiatr Genet 16:19-23. 2006
    ..Therefore, as only a few rare coding variants have been detected in the autism candidate genes on 7q examined to date, we decided to screen these ultraconserved elements for possible autism susceptibility alleles...
  57. ncbi A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity
    Paul R Buckland
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Biochim Biophys Acta 1690:238-49. 2004
    ..Our data therefore provide for the first time empirical evidence that promoter element polymorphisms, at least in brain expressed genes, should be afforded a high priority for molecular genetic studies...
  58. ncbi Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's disease
    Zhong Zhao
    Neuroinflammation Research Laboratories, The Mount Sinai School of Medicine, New York, NY 10029, United States
    Neurobiol Aging 28:824-30. 2007
    ....
  59. pmc Receptor protein tyrosine phosphatase gamma is a marker for pyramidal cells and sensory neurons in the nervous system and is not necessary for normal development
    Smaragda Lamprianou
    Institut Pasteur, Department of Neuroscience, 25 rue du Dr Roux, 75724 Paris, France
    Mol Cell Biol 26:5106-19. 2006
    ..An initial behavioral analysis showed minor changes in the RPTPgamma-null mice...
  60. ncbi Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia
    Gabriel Corfas
    Division of Neuroscience, Children s Hospital, and Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Neurosci 7:575-80. 2004
    ..These findings open new approaches to defining the molecular and cellular basis of schizophrenia in more mechanistic terms...