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

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 a...

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Detalles Bibliográficos
Autores principales: Zhou, Libin, Nho, Kwangsik, Haddad, Maria G., Cherepacha, Nicole, Tubeleviciute-Aydin, Agne, Tsai, Andy P., Saykin, Andrew J., Jesper Sjöström, P., LeBlanc, Andrea C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8209045/
https://www.ncbi.nlm.nih.gov/pubmed/34135352
http://dx.doi.org/10.1038/s41598-021-91367-0