The Sortilin-Related Receptor SORL1 is Functionally and Genetically Associated with Alzheimer's Disease

被引：2

作者：

Rogaeva, Elkaterina

Meng, Yan

Lee, Joseph H.

Mayeux, Richard

Farrer, Lindsay A.

St George-Hyslop, Peter ^{[1
,2
,3
,4
,5
]}

机构：

[1] Univ Toronto, Ctr Res Neurodegenerat Dis, Dept Med, Dept Lab Med & Pathol, Toronto, ON, Canada

[2] Univ Toronto, Dept Med, Dept Lab Med & Pathol, Dept Med Biophys, Toronto, ON, Canada

[3] Univ Cambridge, Addenbrookes Hosp, Dept Clin Neurosci, Cambridge, England

[4] Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res, Cambridge, England

[5] Toronto Western Hosp Res inst, Toronto, ON, Canada

来源：

INTRACELLULAR TRAFFIC AND NEURODEGENERATIVE DISORDERS | 2009年

基金：

加拿大健康研究院; 英国惠康基金; 美国国家卫生研究院;

关键词：

AMYLOID PRECURSOR PROTEIN; MISSENSE MUTATIONS; BETA PRODUCTION; GENOME-WIDE; VARIANTS; GENE; SEGREGATION; POPULATION; RETROMER; RISK;

D O I：

10.1007/978-3-540-87941-1_12

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The recycling of the amyloid precursor protein (APP) from the cell Surface via the endocytic pathways plays a key role in the generation of amyloid P-peptide (A beta), the accumulation of which is thought to be central to the pathogenesis of Alzheimer's disease (AD). Inherited variants in the SORL1 neuronal sorting receptor have been reproducibly associated with late-onset AD. These variants occur in intronic sequences and may regulate tissue-specific expression of SORL1, which directs trafficking of APP into recycling pathways. When SORL1 is under-ex pressed, APP is sorted into A beta-generating compartments. These data lead to the conclusion that inherited or acquired changes in SORL1 gene expression or function are mechanistically involved in causing AD.

引用

页码：157 / +

页数：4

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