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Article

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

Scientific reports - 16 Jun 2021

Zhou Libin, Nho Kwangsik, Haddad Maria G, Cherepacha Nicole, Tubeleviciute-Aydin Agne, Tsai Andy P, Saykin Andrew J, Jesper Sjöström P, LeBlanc Andrea C

Abstract excerpt

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 threonine at amino acid 73 in Casp6 (Casp6N73T), was associated with hippocampal subfield CA1 volume preservation. Compared to...

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Identifiers

PMID: 34135352
DOI: 10.1038/s41598-021-91367-0
PMCID: PMC8209045

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