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Article

A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 alleles.

Autophagy - 1 Sept 2026

Carpentier Marion, Chatron Nicolas, Rouvet Isabelle, Monin Pauline, Nadaud Béatrice, Consortium Auragen, Sanlaville Damien, Courchet Julien, Strappazzon Flavie

Abstract excerpt

Macroautophagy/autophagy is a fundamental process for neuronal homeostasis, yet its role in human development, notably brain development, remains poorly understood. Here, we report a fetus presenting severe developmental defects, including brain malformations, carrying two deleterious variants in ATG7, a gene associated with severe neurodevelopmental disorders: maternally inherited nonsense mutation Arg659Ter...

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Source

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Identifiers

PMID: 42157368
DOI: 10.1080/15548627.2026.2673172
PMCID: PMC13501979

Genes

ATG7
GABARAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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