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Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Alzheimers Res Ther. 2018-10;

ParacchiniLara，BeltrameLuca，BoeriLucia，FuscoFederica，CaffarraPaolo，MarchiniSergio，AlbaniDiego，ForloniGianl

Products/Services Used	Details	Operation
ORF cDNA Clones/MolecularCloud	… cells. pSEZ6(R615H) cloning. Synthetic SEZ6(R615H) complementary DNA was provided by GenScript® in pCDNA3.1(+) vector and expanded in competent Escherichia coli cells (strain JM109; Promega, Madison, WI, USA) …	Get A Quote

摘要

The typical familial form of Alzheimer's disease (FAD) accounts for about 5% of total Alzheimer's disease (AD) cases. Presenilins (PSEN1 and PSEN2) and amyloid-β (A4) precursor protein (APP) genes carry all reported FAD-linked mutations. However， other genetic loci may be involved in AD. For instance， seizure-related gene 6 (SEZ6) has been reported in brain development and psychiatric disorders and is differentially expressed in the cerebrospinal fluid of AD cases.