Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.
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DOI：
10.1002/ajmg.a.35395
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发表时间：
2012-11
影响因子：
2
通讯作者：
Porter, Forbes D.
中科院分区：
文献类型：
--
作者：
Fu, Rao;Yanjanin, Nicole M.;Elrick, Matthew J.;Ware, Christopher;Lieberman, Andrew P.;Porter, Forbes D.
尼曼-匹克病，C1型（NPC1）是一种导致进行性神经损伤的脂质储存障碍。NPC1表型非常多变，在个体水平上可能受到其他遗传性状的影响。除了NPC1蛋白的残留功能外，我们假设修饰基因，正如在其他常染色体隐性疾病中经常观察到的那样，影响鼻咽癌的表型。NPC1表型包括进行性痴呆，NPC病理与阿尔茨海默病的病理有一定的重叠。因此，我们在15例具有明显特征的纵向疾病进展的NPC1患者队列中检测了载脂蛋白E （ApoE）和微管相关蛋白tau （MAPT）多态性。虽然我们没有发现疾病严重程度与Tau多态性之间的任何相关性，但我们发现ApoE多态性与表型严重程度之间存在显著关联。具体来说，ApoE4和ApoE2等位基因分别与NPC1患者疾病严重程度的增加和降低相关。这些数据支持ApoE可能在调节NPC1神经病理中发挥作用的假设。
Niemann-Pick 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. 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.
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DOI：
10.1186/1744-9081-2-13
发表时间：
2006-04-07
期刊：
Behavioral and brain functions : BBF
影响因子：
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作者：
Zuo, Lingjun;van Dyck, Christopher H;Gelernter, Joel
通讯作者：
Gelernter, Joel
影响因子：
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作者：
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影响因子：
3.5
作者：
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DOI：
10.1073/pnas.72.5.1858
发表时间：
1975-01-01
影响因子：
11.1
作者：
WEINGARTEN, MD;LOCKWOOD, AH;KIRSCHNER, MW
通讯作者：
KIRSCHNER, MW
DOI：
10.1093/jnen/60.7.731
发表时间：
2001-07-01
影响因子：
3.2
作者：
Yamaguchi, H;Sugihara, S;Ihara, Y
通讯作者：
Ihara, Y