Gerard D Schellenberg

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia
    Purnima Desai Sundar
    Department of Medicine, Division of Gerontology and Geriatric Medicine, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 16:295-306. 2007
  2. ncbi request reprint The genetics of Alzheimer's disease
    G D Schellenberg
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, 1660 South Columbian Avenue, Seattle, WA 98108 1597, USA
    Curr Psychiatry Rep 2:158-64. 2000
  3. ncbi request reprint Early Alzheimer's disease genetics
    Gerard D Schellenberg
    J Alzheimers Dis 9:367-72. 2006
  4. ncbi request reprint Evidence for multiple loci from a genome scan of autism kindreds
    G D Schellenberg
    Geriatrics Research Education and Clinical Center, Puget Sound Veterans Affairs Medical Center, Seattle, WA 98108, USA
    Mol Psychiatry 11:1049-60, 979. 2006
  5. pmc Apolipoprotein E highly correlates with AbetaPP- and tau-related markers in human cerebrospinal fluid
    Simona Vuletic
    Northwest Lipid Metabolism and Diabetes Research Laboratories, University of Washington School of Medicine, Seattle, WA 98109, USA
    J Alzheimers Dis 15:409-17. 2008
  6. ncbi request reprint APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation
    Ellen M Wijsman
    Department of Medicine, Division of Medical Genetics, University of Washington, Box 357720, Seattle, WA 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 132:14-20. 2005
  7. pmc Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association
    Chang En Yu
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Genomics 89:655-65. 2007
  8. pmc Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels
    Lynn M Bekris
    Geriatric Research, Education, and Clinical Center GRECC, VA Puget Sound Health Care System, Seattle, WA 98108, USA
    J Alzheimers Dis 13:255-66. 2008
  9. pmc Intranasal insulin administration dose-dependently modulates verbal memory and plasma amyloid-beta in memory-impaired older adults
    Mark A Reger
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    J Alzheimers Dis 13:323-31. 2008
  10. pmc Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype
    Suman Jayadev
    Department of Neurology, University of Washington, Seattle, WA, USA
    Ann Neurol 69:712-20. 2011

Research Grants

  1. Genomic Analysis of Alzheimer's Disease Genes
    Gerard Schellenberg; Fiscal Year: 2007

Detail Information

Publications81

  1. ncbi request reprint Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia
    Purnima Desai Sundar
    Department of Medicine, Division of Gerontology and Geriatric Medicine, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 16:295-306. 2007
    ..Others have shown that SNP6 is also associated with risk for progressive supranuclear palsy. These two independent cis-acting sites presumably influence risk for Guam neuro-degenerative disorders by regulating MAPT expression...
  2. ncbi request reprint The genetics of Alzheimer's disease
    G D Schellenberg
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, 1660 South Columbian Avenue, Seattle, WA 98108 1597, USA
    Curr Psychiatry Rep 2:158-64. 2000
    ..Identification of additional late-onset genes will require larger samples, more sophisticated analysis methods, and large-scale positional cloning efforts...
  3. ncbi request reprint Early Alzheimer's disease genetics
    Gerard D Schellenberg
    J Alzheimers Dis 9:367-72. 2006
    ..Another critical lesson is that clinical, molecular, and statistical scientists need to work closely on disease projects to succeed in solving the complex problems of common genetic disorders...
  4. ncbi request reprint Evidence for multiple loci from a genome scan of autism kindreds
    G D Schellenberg
    Geriatrics Research Education and Clinical Center, Puget Sound Veterans Affairs Medical Center, Seattle, WA 98108, USA
    Mol Psychiatry 11:1049-60, 979. 2006
    ..Diagnostic specificity and detailed analysis of the autism phenotype is critical for identifying autism loci...
  5. pmc Apolipoprotein E highly correlates with AbetaPP- and tau-related markers in human cerebrospinal fluid
    Simona Vuletic
    Northwest Lipid Metabolism and Diabetes Research Laboratories, University of Washington School of Medicine, Seattle, WA 98109, USA
    J Alzheimers Dis 15:409-17. 2008
    ..Our data suggest that there is a significant physiological link between apoE and AbetaPP, as well as between apoE and tau in neurologically healthy, cognitively intact individuals...
  6. ncbi request reprint APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation
    Ellen M Wijsman
    Department of Medicine, Division of Medical Genetics, University of Washington, Box 357720, Seattle, WA 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 132:14-20. 2005
    ..5, and approximately 8.5%, respectively. These results provide evidence that APOE and other loci modify onset in AD caused by PS2 mutation...
  7. pmc Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association
    Chang En Yu
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Genomics 89:655-65. 2007
    ..These observations diminish the possibility that loci in the TOMM40 gene may have a major effect on the risk for LOAD in Caucasians...
  8. pmc Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels
    Lynn M Bekris
    Geriatric Research, Education, and Clinical Center GRECC, VA Puget Sound Health Care System, Seattle, WA 98108, USA
    J Alzheimers Dis 13:255-66. 2008
    ..Further investigation of the genetic influence of these loci on apoE expression levels in the central nervous system is likely to provide new insight into apoE regulation as well as AD pathogenesis...
  9. pmc Intranasal insulin administration dose-dependently modulates verbal memory and plasma amyloid-beta in memory-impaired older adults
    Mark A Reger
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    J Alzheimers Dis 13:323-31. 2008
    ..These findings suggest that groups with different genetic risks for AD may show differential dose-response curves following intranasal insulin administration...
  10. pmc Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype
    Suman Jayadev
    Department of Neurology, University of Washington, Seattle, WA, USA
    Ann Neurol 69:712-20. 2011
    ..To describe the Alzheimer disease (AD)-like clinical and pathological features, including marked neurofibrillary tangle (NFT) pathology, of a familial prion disease due to a rare nonsense mutation of the prion gene (PRNP)...
  11. pmc Age-varying association between statin use and incident Alzheimer's disease
    Ge Li
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
    J Am Geriatr Soc 58:1311-7. 2010
    ..To determine whether risk reduction of statins for Alzheimer's disease (AD) varies by age or presence of apolipoprotein E (APOE) epsilon4 allele...
  12. ncbi request reprint Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease
    Weiva Sieh
    Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Hum Hered 63:26-34. 2007
    ..We evaluated the effects of different methods of haplotype frequency estimation, and the use of marker phase information, on linkage analysis of a multi-SNP cluster in a candidate region for Alzheimer's disease (AD)...
  13. pmc The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
    Chang En Yu
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 67:161-70. 2010
    ..However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations...
  14. pmc APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure
    Lynn M Bekris
    Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Washington 98108, USA
    Am J Med Genet B Neuropsychiatr Genet 153:409-17. 2010
    ....
  15. pmc Effects of insulin and octreotide on memory and growth hormone in Alzheimer's disease
    G Stennis Watson
    Geriatric Research, Education, and Clinical Center, VA Puget Sound Healthcare System, Seattle, WA, USA
    J Alzheimers Dis 18:595-602. 2009
    ..0299). Thus, insulin and octreotide appear to regulate memory in older adults. APOE epsilon4 genotype modulates responses to insulin and octreotide. Finally, insulin may regulate GH levels during euglycemia...
  16. pmc APOE ε4 increases risk for dementia in pure synucleinopathies
    Debby Tsuang
    Veterans Affairs Puget Sound Health Care System, Seattle, WA98108, USA
    JAMA Neurol 70:223-8. 2013
    ..To test for an association between the apolipoprotein E (APOE) ϵ4 allele and dementias with synucleinopathy...
  17. ncbi request reprint Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series
    Debby W Tsuang
    Mental Illness Research, Education, and Clinical Centers, Veteran Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    J Alzheimers Dis 9:235-42. 2006
    ..Lewy body pathology (LBP) is a common finding in Alzheimer's disease (AD), but the pathophysiology for this coexistent pathology remains unclear...
  18. ncbi request reprint Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease
    Kiri L Brickell
    Department of Neurology, VA Puget Sound Health Care System, University of Washington, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 63:1307-11. 2006
    ..Genetic influences on the development of late-onset Alzheimer disease (LOAD) are heterogeneous and ill defined...
  19. ncbi request reprint Effect of statins on Alzheimer's disease biomarkers in cerebrospinal fluid
    Robert G Riekse
    Department of Medicine, Division of Geriatric Medicine, University of Washington School of Medicine, and VA Puget Sound Health Care System, Seattle, WA 98108, USA
    J Alzheimers Dis 10:399-406. 2006
    ..Putative neuroprotective effects of statins may vary in relation to their ability to penetrate into the central nervous system (CNS)...
  20. pmc Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families
    Elizabeth E Marchani
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 153:1031-41. 2010
    ..More generally, this study also demonstrates the value of searching for modifier loci in existing datasets previously used to identify primary causal variants for complex disease traits...
  21. pmc Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates
    Weiva Sieh
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 18:3725-38. 2009
    ..Elucidation of the genetic basis of ALS/PDC should improve our understanding of related neurodegenerative disorders including Alzheimer disease, Parkinson disease, frontotemporal dementia and ALS...
  22. pmc Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16
    Nicola H Chapman
    Department of Medicine, University of Washington, Seattle, WA, USA
    Hum Genet 129:59-70. 2011
    ..The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD...
  23. ncbi request reprint TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease
    Christopher S Carlson
    The Fred Hutchinson Cancer Research Center, Division of Public Health Sciences, The University of Washington, Seattle, USA
    J Lipid Res 47:1014-24. 2006
    ....
  24. pmc Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset
    Wei Zhao
    Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet B Neuropsychiatr Genet 162:201-12. 2013
    ..12. These results provide the first independent confirmation of an AD age-at-onset locus on chromosome 6 and suggest that further efforts towards identifying the underlying causal locus or loci are warranted...
  25. pmc Preclinical evidence of Alzheimer changes: convergent cerebrospinal fluid biomarker and fluorodeoxyglucose positron emission tomography findings
    Eric C Petrie
    Mail Code S 182 GRECC, Veterans Affairs Puget Sound Health Care System, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 66:632-7. 2009
    ....
  26. ncbi request reprint Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease
    Erin M Ramos
    Institute for Public Health Genetics, Department of Medicine, University of Washington, Seattle, WA, USA
    Arch Neurol 63:1165-9. 2006
    ..Functional polymorphisms in tumor necrosis factor alpha (TNF-alpha) and interleukin 10 (IL-10) can affect immune response, inflammation, tissue injury, and possibly the susceptibility to Alzheimer disease (AD)...
  27. pmc Tau isoform regulation is region- and cell-specific in mouse brain
    Pamela McMillan
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA
    J Comp Neurol 511:788-803. 2008
    ..These developmental and species-specific differences in the regulation and distribution of tau isoforms may be important to the understanding of normal and pathologic tau isoform expression...
  28. pmc LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease
    Cyrus P Zabetian
    Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
    Mov Disord 24:1034-41. 2009
    ..However, LRRK2 mutations appear to be rare among Japanese patients with PD...
  29. ncbi request reprint Age and apolipoprotein E*4 allele effects on cerebrospinal fluid beta-amyloid 42 in adults with normal cognition
    Elaine R Peskind
    VA Puget Sound Health Care System, Mental Illness Research, Education, and Clinical Center, Seattle, WA 98108, USA
    Arch Neurol 63:936-9. 2006
    ..Normal aging and the presence of the apolipoprotein E (APOE*4) allele are the most important known risk factors for Alzheimer disease...
  30. pmc Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype
    James B Leverenz
    Parkinson s Disease, Mental Illness Research, Education, and Clinical Centers, Veterans Affairs Puget Sound Health Care System, Seattle, Wash, USA
    Arch Neurol 63:370-6. 2006
    ..The origin and significance of Lewy bodies and neurites (Lewy body pathology [LBP]) in Alzheimer disease (AD) are poorly understood...
  31. ncbi request reprint SUT-1 enables tau-induced neurotoxicity in C. elegans
    Brian C Kraemer
    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Hum Mol Genet 16:1959-71. 2007
    ..The SUT-1/UNC-34 protein-protein interaction plays a role in both the normal function of UNC-34 and in the tau-induced phenotype. Thus, we have found a conserved molecular pathway participating in tau neurotoxicity in C. elegans...
  32. ncbi request reprint Molecular pathways that influence human tau-induced pathology in Caenorhabditis elegans
    Brian C Kraemer
    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108 1597, USA
    Hum Mol Genet 15:1483-96. 2006
    ..This work uncovers novel candidate genes that prevent tau toxicity, as well as genes previously implicated in tau-mediated neurodegeneration...
  33. ncbi request reprint ADLAPH: A molecular haplotyping method based on allele-discriminating long-range PCR
    Chang En Yu
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Genomics 84:600-12. 2004
    ..We demonstrate the feasibility of this molecular haplotyping procedure by generating apolipoprotein E (APOE) haplotypes from 100 unrelated subjects...
  34. pmc Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders
    Ignacio F Mata
    Department of Neurology, University of Washington School of Medicine, Seattle, USA
    Arch Neurol 65:379-82. 2008
    ..However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings...
  35. doi request reprint Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease
    Suman Jayadev
    Department of Neurology, University of Washington, Seattle, USA
    Arch Neurol 65:373-8. 2008
    ..There is limited information regarding children's risk of Alzheimer disease (AD) if both parents are affected...
  36. pmc SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans
    Chris R Guthrie
    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Hum Mol Genet 18:1825-38. 2009
    ..The identification of sut-2 as a gene required for tau neurotoxicity in C. elegans may suggest new neuroprotective strategies capable of arresting tau pathogenesis in tauopathy disorders...
  37. ncbi request reprint Regulation of tau isoform expression and dementia
    Ian D'Souza
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, 1660 S Columbian Way, Seattle, WA 98108, USA
    Biochim Biophys Acta 1739:104-15. 2005
    ..FTDP-17 highlights the association between splicing mutations and the pronounced variability in pathology as well as phenotype that is characteristic of inherited disorders...
  38. pmc Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2
    Ellen M Wijsman
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
    Am J Hum Genet 75:398-409. 2004
    ..We also obtained weak evidence of linkage to chromosome 10 at the same location as a previous report of linkage but found no evidence for linkage of LOFAD age-at-onset loci to chromosomes 9, 12, or 21...
  39. ncbi request reprint Dementia and Alzheimer disease incidence: a prospective cohort study
    Walter A Kukull
    National Alzheimer Coordinating Center, Department of Epidemiology, Box 357236, School of Public Health and Community Medicine, University of Washington, Seattle, WA 98195 7236, USA
    Arch Neurol 59:1737-46. 2002
    ..Incidence estimates for the United States are few and vary with the population sampled and study design; we present data that will contribute to a consensus of these rates...
  40. ncbi request reprint Insulin dose-response effects on memory and plasma amyloid precursor protein in Alzheimer's disease: interactions with apolipoprotein E genotype
    Suzanne Craft
    Geriatric Research, Education, and Clinical Center, Veteran Affairs Puget Sound Health Care System, 1660 South Columbian Way, Seattle, WA 98108, USA
    Psychoneuroendocrinology 28:809-22. 2003
    ....
  41. pmc APOE genotype is associated with oral herpetic lesions but not genital or oral herpes simplex virus shedding
    David M Koelle
    Department of Medicine, University of Washington, Seattle, Washington 98102, USA
    Sex Transm Infect 86:202-6. 2010
    ..Apolipoprotein E is polymorphic in the human population. APOE4 has previously been reported to correlate with symptomatic oral and genital herpes disease...
  42. pmc Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis
    Brian C Kraemer
    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Acta Neuropathol 119:409-19. 2010
    ..Thus, TDP-43 is essential for viability, and mild reduction in TDP-43 function is sufficient to cause motor deficits without degeneration of motor neurons...
  43. pmc Altered medial temporal lobe responses during visuospatial encoding in healthy APOE*4 carriers
    Paul R Borghesani
    Mental Illness Research, Education, and Clinical Center MIRECC, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Neurobiol Aging 29:981-91. 2008
    ..Reduced task-associated MTL activation that does not correlate with either visuospatial perspective or task performance suggests that MTL dysregulation occurs prior to clinical symptoms of dementia in APOE*4 carriers...
  44. pmc Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment
    Yun Ju Sung
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
    Am J Hum Genet 76:68-81. 2005
    ..92). This finding suggests a shared genetic basis of these two traits and that they may be most promising for future gene mapping and for extending pedigrees by phenotyping additional relatives...
  45. ncbi request reprint Ex vivo measures of LDL oxidative susceptibility predict carotid artery disease
    Audrey Hendrickson
    Division of Medical Genetics, The University of Washington Department of Medicine, Seattle, WA 98195, USA
    Atherosclerosis 179:147-53. 2005
    ..The purpose of the study was to assess whether ex vivo measures of low-density lipoprotein (LDL) oxidation improved prediction of carotid artery disease (CAAD) case-control status compared to standard lipid and smoking measures...
  46. pmc Neurodegeneration and defective neurotransmission in a Caenorhabditis elegans model of tauopathy
    Brian C Kraemer
    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108 1597, USA
    Proc Natl Acad Sci U S A 100:9980-5. 2003
    ..Postsynaptic transmission is intact. This transgenic model will enable mechanistic dissection of tau-induced neurodegeneration and identification of genes and compounds that inhibit pathological tau formation...
  47. ncbi request reprint Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Delta280K AND N279K
    Ian D'Souza
    Department of Medicine Division of Gerontology and Geriatric Medicine, Pharmacology and Neurology, University of Washington, Seattle, Washington 98195, USA
    J Biol Chem 281:2460-9. 2006
    ..The data suggest that SF2/ASF has both essential and regulatory roles, whereas Tra2beta has a supporting role in exon 10 splicing...
  48. pmc Presence of large deletions in kindreds with autism
    Chang En Yu
    Geriatrics Research Education and Clinical Center, Puget Sound Veterans Affairs Medical Center, University of Washington, Seattle 98108, USA
    Am J Hum Genet 71:100-15. 2002
    ..An alternative hypothesis is that autism-susceptibility alleles elsewhere cause the deletions detected here, possibly by inducing errors during meiosis...
  49. pmc Reduced hippocampal insulin-degrading enzyme in late-onset Alzheimer's disease is associated with the apolipoprotein E-epsilon4 allele
    David G Cook
    Geriatric Research, Education, and Clinical Center, Veteran Affairs Puget Sound Health Care System, Seattle, Washington 98108, USA
    Am J Pathol 162:313-9. 2003
    ..These findings show that reduced IDE expression is associated with a significant risk factor for AD and suggest that IDE may interact with APOE status to affect Abeta metabolism...
  50. ncbi request reprint Using Caenorhabditis elegans models of neurodegenerative disease to identify neuroprotective strategies
    Brian Kraemer
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, Washington 98108, USA
    Int Rev Neurobiol 77:219-46. 2007
  51. ncbi request reprint Vitamin C and E intake is associated with increased paraoxonase activity
    Gail P Jarvik
    Department of Medicine, Division of Medical Genetics, University of Washington 98195, USA
    Arterioscler Thromb Vasc Biol 22:1329-33. 2002
    ..Vitamins C and E, dietary antioxidants, scavenge free-oxygen radical products that may depress PON1 activity. Therefore, we evaluated the relationship between dietary vitamin C and E intake and PON1 activity...
  52. ncbi request reprint Paraoxonase activity, but not haplotype utilizing the linkage disequilibrium structure, predicts vascular disease
    Gail P Jarvik
    Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Wash, USA
    Arterioscler Thromb Vasc Biol 23:1465-71. 2003
    ..The effects of paraoxonase (PON1) activity and of genetic variation in the PON1 promoter and coding region on carotid artery disease (CAAD) were investigated...
  53. ncbi request reprint Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins
    Razia Sultana
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA
    Genomics 80:129-34. 2002
    ..Thus, although it is unlikely that AUTS2 is an autism susceptibility gene for idiopathic autism, it may be the gene responsible for the disorder in the twins studied here...
  54. pmc Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism
    Parvoneh Poorkaj
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA
    BMC Neurol 5:4. 2005
    ..A subset of familial PD exhibits anticipation, the cause of which is unknown. The aim of this study was to determine if anticipation was due to parkin mutation dosage...
  55. ncbi request reprint Salivary cortisol and memory function in human aging
    Ge Li
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA
    Neurobiol Aging 27:1705-14. 2006
    ..Previous studies have suggested that elevated glucocorticoid concentrations alter hippocampal neuronal morphology, inhibit neurogenesis, and impair cognition...
  56. pmc DRAW+SneakPeek: analysis workflow and quality metric management for DNA-seq experiments
    Chiao Feng Lin
    Department of Pathology and Laboratory Medicine and Institute for Biomedical Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA, Department of Physics, University of Washington, Seattle, WA 98105, USA, Genomics and Computational Biology Graduate Group, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA and Department of Pathology and Laboratory Medicine, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Bioinformatics 29:2498-500. 2013
    ..Both DRAW and SneakPeek are freely available under the MIT license, and are available as Amazon machine images to be used directly on Amazon cloud with minimal installation...
  57. ncbi request reprint Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants
    Steven D Edland
    Department of Epidemiology, University of Washington, Seattle, Washington, USA
    Alzheimer Dis Assoc Disord 16:1-7. 2002
    ..Substantially larger samples than are currently available would be required to resolve this question. G5460(A/T) variants were also investigated and found not to be associated with Alzheimer disease...
  58. ncbi request reprint An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype
    Parvoneh Poorkaj
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA 98195, USA
    Ann Neurol 52:511-6. 2002
    ..Insoluble tau from cortical regions also contained 1N3R tau. Thus, the R5L mutation causes a progressive supranuclear palsy phenotype, presumably by a gain-of-function mechanism...
  59. ncbi request reprint A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk
    Dana C Crawford
    Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA
    J Lipid Res 49:588-96. 2008
    ..These findings may further our understanding of VLDLR function, its ligand APOE, and ultimately the pathogenesis of CAAD in the general population...
  60. ncbi request reprint Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism
    Thomas H Wassink
    Department of Psychiatry, The University of Iowa, USA
    Arch Gen Psychiatry 64:709-17. 2007
    ..Autism is a heritable neurodevelopmental disorder characterized biologically by enlargement of the head and brain and abnormalities of serotonin neurotransmission...
  61. ncbi request reprint Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia
    Xiaohong Li
    Department of Neurology, Pritzker School of Medicine and Center for Comprehensive Care and Research on Memory Disorders, University of Chicago, 5841 S Maryland Avenue, Chicago, IL 60637, USA
    Ann Neurol 58:858-64. 2005
    ..However, the strong association between heterozygosity and PPA raises new questions about its cause and the role of PrP in other neurodegenerative diseases...
  62. ncbi request reprint Defining the broader phenotype of autism: genetic, brain, and behavioral perspectives
    Geraldine Dawson
    Center of Human Development and Disability, University of Washington, Seattle 98195, USA
    Dev Psychopathol 14:581-611. 2002
    ....
  63. ncbi request reprint No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network
    Bernie Devlin
    Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, Pennsylvania, USA
    Am J Med Genet 114:667-72. 2002
    ..Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism...
  64. 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...
  65. ncbi request reprint A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia
    Roneil Malkani
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35, Convent Drive, Bethesda, MD 20892, USA
    Neurobiol Dis 22:401-3. 2006
    ..This mutation sheds light on a novel mechanism by which over-expression of 4-repeat tau leads to disease. Based on our current findings, we propose a novel mechanism by which intronic mutations can lead to frontotemporal dementia...
  66. ncbi request reprint Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
    Denise M Kay
    Wadsworth Center, New York State Department of Health, Albany, NY 12201 2002, USA
    Ann Neurol 61:47-54. 2007
    ..We present a comprehensive sequence analysis of parkin in control subjects...
  67. ncbi request reprint tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites
    Ian D'Souza
    Division of Gerontology, Department of Medicine, University of Washington and Geriatric Research Education and Clinical Center, Veterans Affairs Puget Siund Health Care System, Seattle Division, USA
    J Biol Chem 277:26587-99. 2002
    ..Additionally, the 3' splice site of E10 is weak and requires exon splicing enhancer elements for efficient E10 inclusion. Thus far, tau FTDP-17 splicing mutations affect six predicted cis-regulatory sequences...
  68. ncbi request reprint Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation
    Katsutoshi Furukawa
    Laboratory of Neurosciences, Gerontology Research Center, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
    J Neurochem 87:427-36. 2003
    ..Our results indicate that a tau mutation which decreases its microtubule-binding ability augments calcium influx by depolymerizing microtubules and activating adenylyl cyclase and PKA...
  69. ncbi request reprint Alzheimer disease genes: presenilin 2 mutation number 9 and still counting
    Gerard D Schellenberg
    Arch Neurol 60:1521-2. 2003
  70. ncbi request reprint High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
    Rosa Rademakers
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium
    Hum Mol Genet 14:3281-92. 2005
    ..Thus, risk variants on different H1 htSNP haplotypes and protective variants on H2 contribute to population risk for PSP...
  71. pmc TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis
    Vivianna M Van Deerlin
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Lancet Neurol 7:409-16. 2008
    ..Our aim was to investigate whether TARDBP is a candidate disease gene for familial ALS that is not associated with mutations in superoxide dismutase 1 (SOD1)...
  72. pmc Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease
    Hans Basun
    Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden
    Arch Neurol 65:499-505. 2008
    ..Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-beta-amyloid mutation to date causing the more typical clinical picture of Alzheimer disease...
  73. ncbi request reprint The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status
    Laura S Rozek
    Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA
    J Lipid Res 46:1888-95. 2005
    ..We found that PON1 activity was correlated with HDL traits in controls and with LDL- and VLDL-related traits in cases. We hypothesize differences in the joint regulation of PON1 and lipoproteins in cases and controls...
  74. ncbi request reprint Heterogeneous association between engrailed-2 and autism in the CPEA network
    Camille W Brune
    Department of Psychiatry, Institute for Juvenile Research, University of Illinois Chicago, Chicago, Illinois, USA
    Am J Med Genet B Neuropsychiatr Genet 147:187-93. 2008
    ..Future studies investigating EN2 should consider how the association of variants in this gene with autism could be influenced by differences in phenotype and possible interactions with genotypes at other autism candidate genes...
  75. ncbi request reprint Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative
    Rosa Rademakers
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Lancet Neurol 6:857-68. 2007
    ..The most common mutation in GRN is Arg493X. We aimed to establish the contribution of this mutation to FTLD and related disorders...
  76. pmc Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease
    Kiri L Brickell
    Neurological Foundation of New Zealand, New Zealand
    J Neurol Neurosurg Psychiatry 78:1050-5. 2007
    ..We had the opportunity to assess the concordance and discordance of clinical presentation and neuropathology in three MZ twin pairs with AD...
  77. ncbi request reprint Developmental and vascular risk factors for Alzheimer's disease
    Amy R Borenstein
    Department of Epidemiology and Biostatistics, College of Public Health, University of South Florida, 13201 Bruce B Downs Blvd, Tampa, FL 33612 3805, USA
    Neurobiol Aging 26:325-34. 2005
    ..7-15.5; HR 3.3, 95% CI 1.4-8.1)). These findings indicate that clinical AD is a result of early life as well as later life risk factors, and that genetic predisposition to the disease may modify the constellation of predictors...
  78. ncbi request reprint Apolipoprotein E epsilon4 and change in cognitive functioning in community-dwelling older adults
    Gary E Swan
    Center for Health Sciences, SRI International, Menlo Park, California 94025, USA
    J Geriatr Psychiatry Neurol 18:196-201. 2005
    ..A significant gender x APOE epsilon4 interaction was seen for change in performance on short delay cued recall. These results suggest that APOE epsilon4 is associated with cognitive decline differently in older adult men and women...
  79. ncbi request reprint Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network
    Bernie Devlin
    Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Am J Med Genet B Neuropsychiatr Genet 126:46-50. 2004
    ..Neither is significantly associated with Reelin alleles. Our results are not consistent with a major role for Reelin alleles in liability to autism...
  80. pmc Analysis of the LRRK2 G2019S mutation in Alzheimer Disease
    Cyrus P Zabetian
    Arch Neurol 63:156-7. 2006
  81. pmc A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro
    Matthew J Winton
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    FEBS Lett 582:2252-6. 2008
    ..Thus, A90V may be a genetic risk factor for FTLD/ALS because it predisposes nuclear TDP-43 to redistribute to the cytoplasm and form pathological aggregates...

Research Grants1

  1. Genomic Analysis of Alzheimer's Disease Genes
    Gerard Schellenberg; Fiscal Year: 2007
    ..Likewise, identification of trans-factors may lead to protein targets such as kinases that are also therapeutic targets. ..