Joseph Buxbaum

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. pmc Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease
    Yuji 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
  2. pmc FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4
    Yuji Kajiwara
    Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY, USA
    PLoS ONE 4:e5071. 2009
  3. pmc Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice
    Ozlem Bozdagi
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York, United States of America
    PLoS ONE 7:e42422. 2012
  4. 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
  5. pmc Patterns and rates of exonic de novo mutations in autism spectrum disorders
    Benjamin M Neale
    Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 485:242-5. 2012
  6. pmc SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
    Catalina Betancur
    INSERM U952, Paris, France
    Mol Autism 4:17. 2013
  7. pmc DSM-5: the debate continues
    Joseph D Buxbaum
    Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience and Genetics and Genomic Sciences, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York NY 10029, USA
    Mol Autism 4:11. 2013
  8. pmc Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay
    Ozlem Bozdagi
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA
    Mol Autism 4:9. 2013
  9. pmc The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders
    Joseph 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
  10. ncbi request reprint 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

Research Grants

  1. White Matter Abnormalities in Schizophrenia
    Joseph Buxbaum; Fiscal Year: 2007
  2. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2004
  3. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2005
  4. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2000
  5. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2003
  6. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2007
  7. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2006
  8. 3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic Sequencing
    Joseph Buxbaum; Fiscal Year: 2009
  9. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2003
  10. RAB5 AND APP PROCESSING AS RELATED TO AGING
    Joseph Buxbaum; Fiscal Year: 2002

Detail Information

Publications74

  1. pmc Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease
    Yuji 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...
  2. pmc FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4
    Yuji 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...
  3. pmc Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice
    Ozlem Bozdagi
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York, United States of America
    PLoS ONE 7:e42422. 2012
    ..In the current study we studied the function of Cyfip1 in synaptic physiology and behavior, using mice with a disruption of the Cyfip1 gene...
  4. 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...
  5. pmc Patterns and rates of exonic de novo mutations in autism spectrum disorders
    Benjamin M Neale
    Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 485:242-5. 2012
    ..Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors...
  6. pmc SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
    Catalina Betancur
    INSERM U952, Paris, France
    Mol Autism 4:17. 2013
    ....
  7. pmc DSM-5: the debate continues
    Joseph D Buxbaum
    Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience and Genetics and Genomic Sciences, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York NY 10029, USA
    Mol Autism 4:11. 2013
    ....
  8. pmc Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay
    Ozlem 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...
  9. pmc The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders
    Joseph 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...
  10. ncbi request reprint 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
  11. pmc 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 features
    Joseph 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:..
  12. pmc Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold
    Andreas M Grabrucker
    Institute for Anatomy and Cell Biology, Ulm University, Albert Einstein Allee 11, Ulm, 89081, Germany
    Mol Neurodegener 6:65. 2011
    ..abstract:..
  13. pmc 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 shedding
    Annat 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...
  14. pmc Dietary composition modulates brain mass and solubilizable Abeta levels in a mouse model of aggressive Alzheimer's amyloid pathology
    Steve Pedrini
    Farber Institute for the Neurosciences, Jefferson Medical College, Philadelphia PA USA
    Mol Neurodegener 4:40. 2009
    ..abstract:..
  15. pmc Novel cerebrovascular pathology in mice fed a high cholesterol diet
    Sonia 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:..
  16. pmc Transcriptional profiling of C57 and DBA strains of mice in the absence and presence of morphine
    Dorothy 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...
  17. pmc Multiple rare variants in the etiology of autism spectrum disorders
    Joseph 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...
  18. 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...
  19. ncbi request reprint 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 A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
    L 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...
  21. ncbi request reprint 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...
  22. pmc Genetics in psychiatry: common variant association studies
    Joseph 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...
  23. pmc Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
    Ozlem Bozdagi
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Autism 1:15. 2010
    ..abstract:..
  24. ncbi request reprint 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...
  25. ncbi request reprint 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...
  26. doi request reprint 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...
  27. ncbi request reprint 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...
  28. pmc PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementia
    Weiping Qin
    Department of Psychiatry, Mount Sinai School of Medicine, Bronx, NY, USA
    Arch Neurol 66:352-61. 2009
    ....
  29. 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...
  30. ncbi request reprint 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...
  31. ncbi request reprint 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...
  32. ncbi request reprint 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...
  33. ncbi request reprint 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...
  34. ncbi request reprint 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...
  35. doi request reprint SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner
    Yuji 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...
  36. ncbi request reprint 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
    ....
  37. ncbi request reprint 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
    ....
  38. 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...
  39. ncbi request reprint 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...
  40. ncbi request reprint Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders
    Takeshi 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...
  41. ncbi request reprint 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...
  42. ncbi request reprint White matter changes in schizophrenia: evidence for myelin-related dysfunction
    Kenneth 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
    ....
  43. ncbi request reprint 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...
  44. ncbi request reprint 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...
  45. ncbi request reprint 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...
  46. ncbi request reprint 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...
  47. ncbi request reprint 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
    ....
  48. ncbi request reprint 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...
  49. ncbi request reprint 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
    ....
  50. pmc Finding disease variants in Mendelian disorders by using sequence data: methods and applications
    Iuliana 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...
  51. doi request reprint Putative biological mechanisms for the association between early life adversity and the subsequent development of PTSD
    Rachel 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...
  52. pmc A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders
    Takeshi 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...
  53. ncbi request reprint 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...
  54. ncbi request reprint 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...
  55. pmc Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S
    Xianting 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...
  56. doi request reprint 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...
  57. ncbi request reprint 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...
  58. ncbi request reprint 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...
  59. ncbi request reprint 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...
  60. ncbi request reprint 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...
  61. 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...
  62. ncbi request reprint 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...
  63. ncbi request reprint 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...
  64. ncbi request reprint 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...
  65. ncbi request reprint 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...
  66. ncbi request reprint 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...
  67. 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...
  68. ncbi request reprint 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...
  69. ncbi request reprint 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...
  70. 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...
  71. ncbi request reprint 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...
  72. 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...

Research Grants19

  1. White Matter Abnormalities in Schizophrenia
    Joseph Buxbaum; Fiscal Year: 2007
    ....
  2. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2004
    ..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. ..
  3. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2005
    ..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. ..
  4. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2000
    ..abstract_text> ..
  5. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2003
    ..abstract_text> ..
  6. FUNCTION OF THE FE65/APP COMPLEX
    Joseph 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. ..
  7. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2006
    ..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. ..
  8. 3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic Sequencing
    Joseph Buxbaum; Fiscal Year: 2009
    ....
  9. FUNCTION OF THE FE65/APP COMPLEX
    Joseph Buxbaum; Fiscal Year: 2003
    ..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. ..
  10. RAB5 AND APP PROCESSING AS RELATED TO AGING
    Joseph Buxbaum; Fiscal Year: 2002
    ....
  11. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2002
    ..abstract_text> ..
  12. RAB5 AND APP PROCESSING AS RELATED TO AGING
    Joseph Buxbaum; Fiscal Year: 2001
    ....
  13. PRESENILINS, APOPTOSIS AND AMYLOID BETA PROTEIN
    Joseph Buxbaum; Fiscal Year: 2001
    ..abstract_text> ..
  14. RAB5 AND APP PROCESSING AS RELATED TO AGING
    Joseph Buxbaum; Fiscal Year: 2000
    ....
  15. RAB5 AND APP PROCESSING AS RELATED TO AGING
    Joseph Buxbaum; Fiscal Year: 1999
    ....
  16. 3/5-Elucidating the Genetic Architecture of Autism by Deep Genomic Sequencing
    Joseph D Buxbaum; Fiscal Year: 2010
    ....