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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Autores principales: Libin Zhou, Kwangsik Nho, Maria G. Haddad, Nicole Cherepacha, Agne Tubeleviciute-Aydin, Andy P. Tsai, Andrew J. Saykin, P. Jesper Sjöström, Andrea C. LeBlanc
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/df2d07c515494ee380343cce22ca3145
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