A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor

Familial dementia is a rare inherited disease involving progressive impairment of memory, thinking, and behavior. We report a novel heterozygous pathogenic variant (c.199G > A, p.Val67Ile) in the CIAO1 gene that appears to be co-segregated with Alzheimer’s disease in a Japanese family. Biochemica...

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Detalles Bibliográficos
Autores principales: Nan, Haitian, Kim, Yeon-Jeong, Tsuchiya, Mai, Fukao, Toko, Hara, Noriko, Hagihara, Atsushi, Nishioka, Kenya, Hattori, Nobutaka, Hara, Norikazu, Ikeuchi, Takeshi, Ohtsuka, Toshihisa, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8673532/
https://www.ncbi.nlm.nih.gov/pubmed/34569959
http://dx.doi.org/10.3233/JAD-210706

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