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Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1
Fu, Rao1,2; Yanjanin, Nicole M.1; Elrick, Matthew J.3; Ware, Christopher3; Lieberman, Andrew P.3; Porter, Forbes D.1
关键词neurodegenerative disease lysosomal storage disease apolipoprotein E tau
刊名AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2012-11-01
DOI10.1002/ajmg.a.35395
158A期:11页:2775-2780
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]ALZHEIMERS-DISEASE ; NEUROFIBRILLARY TANGLES ; NEURITIC PLAQUES ; GENE ; APOE ; ALLELE ; ASSOCIATION ; METABOLISM ; NEURONS ; PROTEIN
英文摘要

NiemannPick disease, type C1 (NPC1) is a lipid storage disorder that results in progressive neurological impairment. The NPC1 phenotype is extremely variable and at the individual level is likely influenced by other genetic traits. In addition to residual function of NPC1 protein, we hypothesize that modifier genes, as frequently observed with other autosomal recessive diseases, influence the NPC phenotype. The NPC1 phenotype includes progressive dementia, and the NPC pathology has some overlap with the pathology of Alzheimer disease (AD). Thus, we examined apolipoprotein E (ApoE) and microtubule-associated protein tau (MAPT) polymorphisms in a cohort of 15 NPC1 patients with well characterized longitudinal disease progression. Although we did not find any correlations between disease severity and tau polymorphisms, we found significant associations between ApoE polymorphisms and phenotypic severity. Specifically, ApoE4 and ApoE2 alleles were associated, respectively, with increased and decreased disease severity in this cohort of NPC1 patients. These data support the hypothesis that ApoE may play a role in modulating NPC1 neuropathology. (c) 2012 Wiley Periodicals, Inc.

语种英语
WOS记录号WOS:000310071700022
项目编号NS063967 ; NS065662
资助机构NIH ; NICHD ; Office of Rare Disease ; Ara Parseghian Medical Research Foundation ; Dana Angel&prime ; s Research Trust
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被引频次:17[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/68002
专题北京大学基础医学院
作者单位1.Peking Univ, Sch Basic Med Sci, Beijing 100871, Peoples R China
2.NICHD, Sect Mol Dysmorphol, Program Dev Endocrinol & Genet, NIH,DHHS, Bethesda, MD 20892 USA
3.Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI USA
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Fu, Rao,Yanjanin, Nicole M.,Elrick, Matthew J.,et al. Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2012,158A(11):2775-2780.
APA Fu, Rao,Yanjanin, Nicole M.,Elrick, Matthew J.,Ware, Christopher,Lieberman, Andrew P.,&Porter, Forbes D..(2012).Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.AMERICAN JOURNAL OF MEDICAL GENETICS PART A,158A(11),2775-2780.
MLA Fu, Rao,et al."Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1".AMERICAN JOURNAL OF MEDICAL GENETICS PART A 158A.11(2012):2775-2780.
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