Autism‐associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line

Germline mutation in the PTEN gene is the genetic basis of PTEN hamartoma tumor syndrome with the affected individuals harboring features of autism spectrum disorders. Characterizing a panel of 14 autism‐associated PTEN missense mutations revealed reduced protein stability, catalytic activity, and s...

Descripción completa

Detalles Bibliográficos
Autores principales: Wong, Chi Wai, Wang, Yubing, Liu, Tian, Li, Lisha, Cheung, Stanley Kwok Kuen, Or, Penelope Mei‐Yu, Cheng, Alfred Sze‐Lok, Choy, Kwong Wai, Burbach, Johannes Peter Henri, Feng, Bo, Chang, Raymond Chuen Chung, Chan, Andrew M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Editor's Choice
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754348/
https://www.ncbi.nlm.nih.gov/pubmed/32150788
http://dx.doi.org/10.1111/febs.15287

Ejemplares similares

Ejemplares similares