SORL1mutations in early- and late-onset Alzheimer disease
نویسندگان
چکیده
منابع مشابه
SORL1 mutations in early- and late-onset Alzheimer disease
OBJECTIVE To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHODS We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select variants. The phenotypic consequences associated with SORL1 mutations were characterized based on cli...
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Background and Aims: One of the most important genes involved in Alzheimer's disease (AD) is the presenilin2 (PSEN2) gene, which is one of the main constituents of the gamma-secretase complex. Mutations in this gene promote the formation of amyloid plaques resulting in AD. The study aimed to evaluate the mutation variant in exon 6 of the PSEN2 gene in patients with Late-Onset AD (LOAD). Due to ...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2016
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000116