Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Jack J CollierClaire GuissartMonika OláhováSouphatta SasorithFlorence Piron-PrunierFumi SuomiDavid ZhangNuria Martinez-LopezNicolas LeboucqAngela BahrSilvia Azzarello-BurriSelina ReichLudger SchölsTuomo M PolvikoskiPierre MeyerLise LarrieuAndrew M SchaeferHessa S AlsaifSuad AlyamaniStephan ZuchnerInês A BarbosaCharu DeshpandeAngela PyleAnita RauchMatthis SynofzikFowzan Sami AlkurayaFrançois RivierMina RytenRobert McFarlandAgnès DelahoddeThomas G McWilliamsMichel KoenigRobert W Taylor

Published in: The New England journal of medicine (2021)

We identified several patients with a neurodevelopmental disorder who have survived with a severe loss or complete absence of ATG7, an essential effector enzyme for autophagy without a known functional paralogue. (Funded by the Wellcome Centre for Mitochondrial Research and others.).

Keyphrases

oxidative stress
cell death
endoplasmic reticulum stress
signaling pathway
dendritic cells
regulatory t cells
early onset
type iii
congenital heart disease
immune response
drug induced