Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

WIPI2 is a member of the human WIPI protein family (seven-bladed b-propeller proteins binding phosphatidylinositols, PROPPINs), which play a pivotal role in autophagy and has been implicated in the pathogenesis of several neurological conditions. The homozygous WIPI2 variant c.745G>A; p.(Val249Me...

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Detalles Bibliográficos
Autores principales: Maroofian, Reza, Gubas, Andrea, Kaiyrzhanov, Rauan, Scala, Marcello, Hundallah, Khalid, Severino, Mariasavina, Abdel-Hamid, Mohamed S, Rosenfeld, Jill A, Ebrahimi-Fakhari, Darius, Ali, Zahir, Rahim, Fazal, Houlden, Henry, Tooze, Sharon A, Alsaleh, Norah S, Zaki, Maha S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453401/
https://www.ncbi.nlm.nih.gov/pubmed/34557665
http://dx.doi.org/10.1093/braincomms/fcab183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453401/
https://www.ncbi.nlm.nih.gov/pubmed/34557665
http://dx.doi.org/10.1093/braincomms/fcab183

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