Research Topics
Genomes and Genes
| Joseph BuxbaumSummaryAffiliation: Mount Sinai School of Medicine Country: USA Publications
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Detail Information
Publications
Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's diseaseYuji Kajiwara
Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
Mol Neurodegener 5:1. 2010..There is good evidence that the cytoplasmic domain of LRP1 is involved in protein-protein interactions, important in the cell biology of LRP1...- Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delayOzlem Bozdagi
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Mol Autism 4:9. 2013..Therapeutic approaches that reverse deficits in SHANK3-haploinsufficiency may therefore be broadly beneficial in ASD and in developmental delay... 
The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disordersJoseph D Buxbaum
Seaver Autism Center, Departments of Psychiatry, Neuroscience, and Genetics and Genomic Sciences, and the Friedman Brain Institute, Mount Sinai School of Medicine, New York, NY 10029, USA
Neuron 76:1052-6. 2012..Similar approaches could prove effective for severe neurodevelopmental disorders more broadly...
Human induced pluripotent stem cells: a new model for schizophrenia?Joseph D Buxbaum
Departments of Psychiatry, Neuroscience, and Genetics and Genomic Science, Mount Sinai School of Medicine, New York, NY 10029, USA
Cell Stem Cell 8:461-2. 2011- Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral featuresJoseph D Buxbaum
Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
Mol Autism 3:1. 2012..abstract:.. - Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffoldAndreas M Grabrucker
Institute for Anatomy and Cell Biology, Ulm University, Albert Einstein Allee 11, Ulm, 89081, Germany
Mol Neurodegener 6:65. 2011..abstract:.. - Evidence against roles for phorbol binding protein Munc13-1, ADAM adaptor Eve-1, or vesicle trafficking phosphoproteins Munc18 or NSF as phospho-state-sensitive modulators of phorbol/PKC-activated Alzheimer APP ectodomain sheddingAnnat F Ikin
Farber Institute for Neurosciences of Thomas Jefferson University, 900 Walnut Street, Philadelphia, 19107, PA, USA
Mol Neurodegener 2:23. 2007..Here, we examined the effects on APP ectodomain shedding of four phorbol-sensitive proteins involved in regulation of vesicular membrane trafficking of APP: Munc13-1, Munc18, NSF, and Eve-1... - Dietary composition modulates brain mass and solubilizable Abeta levels in a mouse model of aggressive Alzheimer's amyloid pathologySteve Pedrini
Farber Institute for the Neurosciences, Jefferson Medical College, Philadelphia PA USA
Mol Neurodegener 4:40. 2009..abstract:.. - Novel cerebrovascular pathology in mice fed a high cholesterol dietSonia Franciosi
Department of Psychiatry, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
Mol Neurodegener 4:42. 2009..abstract:.. - Transcriptional profiling of C57 and DBA strains of mice in the absence and presence of morphineDorothy E Grice
Department of Psychiatry, University of Medicine and Dentistry of New Jersey New Jersey Medical School, Newark, NJ, USA
BMC Genomics 8:76. 2007..In the current study, we carried out microarray analysis in C57 and DBA mice in the nucleus accumbens of drug-naïve and morphine-treated animals... - Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephalyJoseph 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... - A role for calsenilin and related proteins in multiple aspects of neuronal functionJoseph 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... - Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility geneJ 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... - Multiple rare variants in the etiology of autism spectrum disordersJoseph D Buxbaum
Laboratory of Molecular Neuropsychiatry, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
Dialogues Clin Neurosci 11:35-43. 2009..In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders... - Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationOzlem Bozdagi
Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA
Mol Autism 1:15. 2010..abstract:.. - 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 19J 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... - A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical regionL Alison McInnes
Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
Mol Autism 1:5. 2010..In this study we surveyed two ASD cohorts for 15q24 abnormalities to assess the frequency of genomic imbalances in this interval... - Genetics in psychiatry: common variant association studiesJoseph D Buxbaum
Seaver Autism Center for Research and Treatment and Department of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA
Mol Autism 1:6. 2010..We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data... - Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autismNicolas 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... - An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 geneNicolas 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... - Altered Abeta formation and long-term potentiation in a calsenilin knock-outChristina 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... - Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphismJeremy 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... - Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephalyJoseph 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... - A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branchingAnnat 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... - PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementiaWeiping Qin
Department of Psychiatry, Mount Sinai School of Medicine, Bronx, NY, USA
Arch Neurol 66:352-61. 2009.... - SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent mannerYuji Kajiwara
Department of Neuroscience, Mount Sinai School of Medicine, New York, New York, USA
Biol Psychiatry 66:918-25. 2009..Rare genetic variants of SLITRK1 have been previously associated with Tourette syndrome (TS), attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD) symptoms... - Disease susceptibility genes for autismIrina 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... - Symptom domains in autism and related conditions: evidence for familialityJeremy 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... - Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican familyIrina N Bespalova
Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
Psychiatr Genet 15:205-10. 2005.... - Familial symptom domains in monozygotic siblings with autismAlexander 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.... - Pharmacological concentrations of the HMG-CoA reductase inhibitor lovastatin decrease the formation of the Alzheimer beta-amyloid peptide in vitro and in patientsJoseph 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... - 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... - Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disordersTakeshi Sakurai
Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Biol Psychiatry 67:887-94. 2010..AGC1 is an important component of the malate/aspartate shuttle, a crucial system supporting oxidative phosphorylation and adenosine triphosphate production... - The genetics of autism spectrum disordersDorothy 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... - Lack of evidence for association of the serotonin transporter gene SLC6A4 with autismNicolas 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... - White matter changes in schizophrenia: evidence for myelin-related dysfunctionKenneth L Davis
Department of Psychiatry, Kastor Neurobiology of Aging Laboratories, Fishberg Research Center for Neurobiology, Mount Sinai School of Medicine, New York, NY 10021, USA
Arch Gen Psychiatry 60:443-56. 2003.... - FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4Yuji Kajiwara
Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY, USA
PLoS ONE 4:e5071. 2009..As caspase-4 shows evidence of being a primate-specific gene, current models of AD and other neurodegenerative conditions may be incomplete because of the absence of this gene in the murine genome... - The amyloid precursor protein and its regulatory protein, FE65, in growth cones and synapses in vitro and in vivoShasta 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... - Autism and ultraconserved non-coding sequence on chromosome 7qEsther Richler
Department of Psychiatry, Mount Sinai School of Medicine, New York, USA
Psychiatr Genet 16:19-23. 2006..CONCLUSIONS: Our results show that these sequences are unlikely to harbor major autism susceptibility alleles... - Elevated plasma cholesterol does not affect brain Abeta in mice lacking the low-density lipoprotein receptorGregory 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... - Lack of association between the levels of the low-density lipoprotein receptor-related protein (LRP) and either Alzheimer dementia or LRP exon 3 genotypeMirsada 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... - Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's diseaseZhong Zhao
Neuroinflammation Research Laboratories, The Mount Sinai School of Medicine, New York, NY 10029, United States
Neurobiol Aging 28:824-30. 2007.... - Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviorsTakeshi Sakurai
Departments of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
Psychiatr Genet 16:251-7. 2006.... - Family-based association study of TPH1 and TPH2 polymorphisms in autismNicolas 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... - Finding disease variants in Mendelian disorders by using sequence data: methods and applicationsIuliana Ionita-Laza
Department of Biostatistics, Columbia University, New York, NY 10032, USA
Am J Hum Genet 89:701-12. 2011..0 × 10(-4) for the Freeman-Sheldon Syndrome gene, and 3.5 × 10(-5) for the Kabuki Syndrome gene... - Putative biological mechanisms for the association between early life adversity and the subsequent development of PTSDRachel Yehuda
Department of Psychiatry, James J Peters Veterans Affairs Medical Center, 526 OOMH, 130 W Kingsbridge Rd, Bronx, NY, USA
Psychopharmacology (Berl) 212:405-17. 2010..Given similarities between neuroendocrine aspects of PTSD and ELS, such as in reduced cortisol signaling and glucocorticoid receptor (GR) responsiveness, some aspects of the biology of PTSD may reflect biological correlates of risk... - Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeletonTara 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... - A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disordersTakeshi Sakurai
Laboratory of Molecular Neuropsychiatry, the Seaver Autism Research Center, Mount Sinai School of Medicine, New York, NY 10029, USA
Autism Res 1:251-7. 2008..These results do not support a significant role for rare coding variants in SLC6A4 in autism spectrum disorders, nor do they support a significant role for SLC6A4 in rigid-compulsive traits in these disorders... - Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019SXianting Li
Department of Neurology, Mount Sinai School of Medicine, New York, New York 10029, USA
J Neurosci 30:1788-97. 2010..The PD-associated mutation G2019S may exert pathogenic effects by impairing these functions of LRRK2. Our LRRK2 BAC transgenic mice, therefore, could provide a useful model for understanding early PD pathological events... - Increased locomotor activity in mice lacking the low-density lipoprotein receptorGregory 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... - Molecular and cellular evidence for an oligodendrocyte abnormality in schizophreniaPatrick 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... - A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesionsSheila 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... - BACE1 and BACE2 in pathologic and normal human muscleGaetano 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... - Intracellular calcium modulates the nuclear translocation of calsenilinNikhat 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... - 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... - Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophreniaLyudmila 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... - Mapping autism risk loci using genetic linkage and chromosomal rearrangementsPeter 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... - Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophreniaTimothy 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... - Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arraysMalek 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... - Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brainJae 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... - Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypesNicholas 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... - Atorvastatin-induced activation of Alzheimer's alpha secretase is resistant to standard inhibitors of protein phosphorylation-regulated ectodomain sheddingS 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... - Altered ultrasonic vocalization in mice with a disruption in the Foxp2 geneWeiguo 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... - A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activityPaul 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... - Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophreniaGabriel 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... - Receptor protein tyrosine phosphatase gamma is a marker for pyramidal cells and sensory neurons in the nervous system and is not necessary for normal developmentSmaragda 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... - Downstream regulatory element antagonistic modulator regulates islet prodynorphin expressionDavid 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...
Research Grants
- White Matter Abnormalities in SchizophreniaJoseph Buxbaum; Fiscal Year: 2007....
- 3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingJoseph Buxbaum; Fiscal Year: 2009....
- FUNCTION OF THE FE65/APP COMPLEXJoseph Buxbaum; Fiscal Year: 2007..Specific Aim 2. To discover genes whose transcription is regulated by the FE65/gamma-CTF complex. Specific Aim 3. To elucidate signals that regulate the formation and nuclear translocation of the FE65/gamma-CTF complex. ..
- PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEINJoseph Buxbaum; Fiscal Year: 2003..abstract_text> ..
- RAB5 AND APP PROCESSING AS RELATED TO AGINGJoseph Buxbaum; Fiscal Year: 2002....
- 3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic SequencingJoseph D Buxbaum; Fiscal Year: 2010....