Rare CASP6N73T variant associated with hippocampal volume exhibits decreased proteolytic activity, synaptic transmission defect, and neurodegeneration

Rare CASP6N73T variant associated with hippocampal volume exhibits decreased proteolytic activity, synaptic transmission defect, and neurodegeneration

Abstract Caspase-6 (Casp6) is implicated in Alzheimer disease (AD) cognitive impairment and pathology. Hippocampal atrophy is associated with cognitive impairment in AD. Here, a rare functional exonic missense CASP6 single nucleotide polymorphism (SNP), causing the substitution of asparagine with th...

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Main Authors: Libin Zhou, Kwangsik Nho, Maria G. Haddad, Nicole Cherepacha, Agne Tubeleviciute-Aydin, Andy P. Tsai, Andrew J. Saykin, P. Jesper Sjöström, Andrea C. LeBlanc
Format: article
Language:EN
Published: Nature Portfolio 2021
Subjects:
Medicine
R
Science
Q
Online Access:https://doaj.org/article/df2d07c515494ee380343cce22ca3145
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https://doaj.org/article/df2d07c515494ee380343cce22ca3145

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