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Genomes and Genes | R L NussbaumSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
What is special about the "human" in "human genetics"?Robert L Nussbaum
Genetic Disease Research Branch, National Human Genome Research Institute, 49 4A72 National Institutes of Health, 49 Convent Drive MSC4472, Bethesda, MD 20892 4472, USA
Am J Hum Genet 76:198-202. 2005
Alzheimer's disease and Parkinson's diseaseRobert L Nussbaum
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA
N Engl J Med 348:1356-64. 2003- Genetics of Parkinson's diseaseR L Nussbaum
Laboratory of Genetic Diseases Research, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
Hum Mol Genet 6:1687-91. 1997..There may be common pathogenetic mechanisms involved in alpha-synuclein mutations in PD and beta-amyloid and presenilin gene mutations in Alzheimer's disease... - Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patientsT Lin
Laboratory of Genetic Disease Research, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
Mol Genet Metab 64:58-61. 1998..Interestingly, missense mutations have occurred only in exons 12 through 15 in highly conserved residues among the phosphatidylinositol 5-phosphatases. These observations suggest useful strategies for mutation screening in OCRL... - Identification, localization and characterization of the human gamma-synuclein geneC Lavedan
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Hum Genet 103:106-12. 1998..The gamma-synuclein gene, also known as BCSG1, was recently found to be overexpressed in advanced infiltrating carcinoma of the breast. Our survey of the EST database indicated that it might also be overexpressed in an ovarian tumor... - Genomic organization and expression of the human beta-synuclein gene (SNCB)C Lavedan
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
Genomics 54:173-5. 1998.... - Mutation in the alpha-synuclein gene identified in families with Parkinson's diseaseM H Polymeropoulos
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1430, USA
Science 276:2045-7. 1997..This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder... - Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory elementJ W Touchman
NIH Intramural Sequencing Center, National Institutes of Health, Gaithersburg, Maryland 20877, USA
Genome Res 11:78-86. 2001..Together, these studies provide valuable data that should facilitate more detailed analysis of this medically important gene... - Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cellsM A Dressman
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
J Histochem Cytochem 48:179-90. 2000..The epithelial cell phenotype in Lowe syndrome and the localization of ocrl1 to the TGN imply that this PtdIns(4,5)P(2) 5-phosphatase plays a role in trafficking. (J Histochem Cytochem 48:179-189, 2000).. - Regulation of alpha-synuclein expression: implications for Parkinson's diseaseO Chiba-Falek
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA
Cold Spring Harb Symp Quant Biol 68:409-15. 2003 - Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporterS Gispert
Genetic Disease Research Branch, National Human Genome Research Institute, and Howard Hughes Medical Institute, NIH, Bethesda, Maryland 20892 4472, USA
DNA Res 7:339-45. 2000..Neurodegenerative diseases with an established role for oxidative stress in the cytoplasm may therefore be conditions of SLC23A1 dysfunction. Key words: gene structure; Vitamin C; transporter; oxidative stress.. - Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter systemO Chiba-Falek
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, MSC 4472, Bethesda, MD 20892 4472, USA
Hum Mol Genet 10:3101-9. 2001.... - Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's diseaseC Lavedan
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
DNA Res 5:401-2. 1998 - First report of prenatal biochemical diagnosis of Lowe syndromeS F Suchy
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Prenat Diagn 18:1117-21. 1998..We report here the first case of prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes... - Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5bE Hellsten
Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
Dev Biol 240:641-53. 2001..Inpp5b(-/-) mice provide an excellent model to study the role of Sertoli and epididymal epithelial cells in the differentiation and maturation of sperm... - Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinaseL Bi
Genetic Diseases Research Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 274:10963-8. 1999..A proliferative defect is supported by the observation that fibroblasts from Pik3cadel/del embryos fail to replicate in Dulbecco's modified Eagle's medium and fetal calf serum, even with supplemental growth factors... - Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domainR A Bascom
Genetic Disease Research Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 274:2953-62. 1999..Data base searching also indicates golgin-84 is similar in structure and sequence to giantin, a membrane protein that tethers coatamer complex I vesicles to the Golgi... 
Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1S F Suchy
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
J Inherit Metab Dis 32:280-8. 2009..We show that the abnormal bradykinin signalling occurs in spite of normal total cellular receptor content. These data point to a novel role for ocrl1 in agonist-induced calcium release...- Parkinsonism among Gaucher disease carriersO Goker-Alpan
Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892 3708, USA
J Med Genet 41:937-40. 2004..Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease... - SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodiesJ Johnson
Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA
Neurology 63:554-6. 2004..The authors did not identify any subjects with multiplication of SNCA and conclude this mutation is a rare cause of disease... - Mapping of a gene for Parkinson's disease to chromosome 4q21-q23M H Polymeropoulos
Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892 1430, USA
Science 274:1197-9. 1996..00 for marker D4S2380. This finding will facilitate identification of the gene and research on the pathogenesis of PD... - alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinasesC E Ellis
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 276:3879-84. 2001..These data suggest that alpha-Syn can be a target for phosphorylation by the Src family of PTKs... - Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndromeT Lin
Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892 4472, USA
Am J Hum Genet 60:1384-8. 1997..Missense mutations that abolish enzyme activity but not expression of the protein will be useful for studying structure-function relationships in PtdIns(4,5)P2 5-phosphatases... - Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synucleinChristopher E Ellis
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Dr, MSC 4472, Bethesda, Maryland 20892 4472, USA
Mol Cell Biol 25:10190-201. 2005..Thus, altered membrane composition and structure and impaired complex I/III function in Snca-/- brain suggest a relationship between alpha-synuclein's role in brain lipid metabolism, mitochondrial function, and PD... - Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filamentsNelson B Cole
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 280:9678-90. 2005.... - Mitochondrial translocation of alpha-synuclein is promoted by intracellular acidificationNelson B Cole
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Exp Cell Res 314:2076-89. 2008..These results imply a direct role for alpha-synuclein in mitochondrial physiology, especially under pathological conditions, and in principle, link alpha-synuclein to other PD genes in regulating mitochondrial homeostasis... - Structure and dynamics of micelle-bound human alpha-synucleinTobias S Ulmer
Laboratory of Chemical Physics, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 280:9595-603. 2005.... - Dent Disease with mutations in OCRL1Richard R Hoopes
Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA
Am J Hum Genet 76:260-7. 2005..It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised... - Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutationJanel Johnson
Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA
Neurodegener Dis 4:386-91. 2007..Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism... - Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6Hans Hermann Hoepken
Section for Molecular Neurogenetics, Clinic for Neurology, University Hospital, Theodor Stern Kai 7, 60590 Frankfurt M, Germany
Neurobiol Dis 25:401-11. 2007..These data indicate that PINK1 function is critical to prevent oxidative damage and that peripheral cells may be useful for studies of progression and therapy of PARK6... - Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate bindingMikhail Y Golovko
Department of Pharmacology, Physiology, and Therapeutics, University of North Dakota, Grand Forks, North Dakota 58202 9037, USA
Biochemistry 44:8251-9. 2005..Thus, alpha-synuclein has effects on 16:0 uptake and metabolism similar to those of an FABP, but unlike FABP, it does not directly bind 16:0; hence, the mechanism underlying these effects is different from that of a classical FABP... - Mining yeast in silico unearths a golden nugget for mitochondrial biologyRobert L Nussbaum
Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
J Clin Invest 115:2689-91. 2005..The research described here combines clever model organism genomics and bioinformatics with sophisticated human molecular and biochemical genetics to identify the first mammalian protein required for the normal assembly of complex I... - Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA geneOrnit Chiba-Falek
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 76:478-92. 2005..The association of different NACP-Rep1 alleles with PD may be mediated, in part, by the effect of PARP-1, as well as other factors, on SNCA expression... - Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synucleinNelson B Cole
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, Maryland 20982, USA
J Biol Chem 277:6344-52. 2002.... - Prevalence of Parkinson's disease in populations of African ancestry: a reviewAideen McInerney-Leo
Medical Genetics Branch, National Human Genome Research Institute, Building 10, Room 3C710, 10 Center Drive, MSC 1253, Bethesda, MD 20892 1253, USA
J Natl Med Assoc 96:974-9. 2004.... - Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein geneOrnit Chiba-Falek
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive MSC 4472, Bethesda, Maryland 20892 4472, USA
Hum Genet 113:426-31. 2003.... - The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerizationSharon F Suchy
National Human Genome Research Institute, Bethesda, MD 20892, USA
Am J Hum Genet 71:1420-7. 2002..These findings point to a general mechanism to explain how this PIP(2) 5-phosphatase deficiency might produce the Lowe syndrome phenotype... - Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4Harriet M Loovers
Department of Molecular Cell Biology, University of Groningen, Kerklaan 30, 9751NN Haren, The Netherlands
Traffic 8:618-28. 2007..Growth on bacteria and axenic medium is largely restored, whereas the rate of phagocytosis of yeast cells is partly restored, indicating that human OCRL can functionally replace Dictyostelium Dd5P4... - A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degenerationChristian Lavedan
Novartis Pharmaceuticals Corporation, Pharmacogenetics, 9 W Watkins Mill Road, Gaithersburg, MD 20878, USA
Neurosci Lett 322:57-61. 2002..This finding suggests, for the first time, that aberrations in neuronal molecules involved in the cytoskeleton could lead to the development of the pathology seen in PD... - Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null backgroundDeborah E Cabin
National Human Genome Research Institute, 49 Convent Dr, Building 49, Room 4A72, NHGRI NIH, Bethesda, MD 20892, USA
Neurobiol Aging 26:25-35. 2005..These data suggest mouse alpha-synuclein is protective against the deleterious effects of the human mutant protein... - Research ethics recommendations for whole-genome research: consensus statementTimothy Caulfield
Health Law Institute, University of Alberta, Edmonton, Alberta, Canada
PLoS Biol 6:e73. 2008 - Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphataseElina Hellsten
Genetic Diseases Research Branch, National Human Genome Research Institute, Veterinary Resources Program, Office of Director, National Institutes of Health, 49 Convent Drive, Bethesda, MD 20892, USA
Biol Reprod 66:1522-30. 2002.... - Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten diseaseAndrew I Brooks
Center for Functional Genomics, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA
Mol Genet Metab 78:17-30. 2003.... - Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease)Gail M Seigel
Department of Ophthalmology, University of Rochester School of Medicine, New York, USA
Mol Cell Neurosci 19:515-27. 2002.... - Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synucleinDeborah E Cabin
Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892 4472, USA
J Neurosci 22:8797-807. 2002..These results reveal, for the first time, the normal function of endogenous alpha-synuclein in regulating synaptic vesicle mobilization at nerve terminals... - Clinical and positron emission tomography of Parkinson's disease caused by LRRK2Dena G Hernandez
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA
Ann Neurol 57:453-6. 2005.... - Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formationSuzana Gispert
Department of Anatomy II Experimental Neurobiology, University Frankfurt M, Frankfurt, Germany
Mol Cell Neurosci 24:419-29. 2003..Transgenic animals expressing mutant alpha-synuclein may be a valuable model to assess specific aspects of the pathogenesis of synucleinopathies... - Proposed guidelines for papers describing DNA polymorphism-disease associationsDavid N Cooper
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
Hum Genet 110:207-8. 2002..Guidelines are therefore proposed that are intended to promote the publication of scientifically meaningful disease association studies through the introduction of sensible methodological standards... - Levels of alpha-synuclein mRNA in sporadic Parkinson disease patientsOrnit Chiba-Falek
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Mov Disord 21:1703-8. 2006....