Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

doi:10.1056/NEJMoa1915722

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Article

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

The New England journal of medicine - 24 Jun 2021

Collier Jack J, Guissart Claire, Oláhová Monika, Sasorith Souphatta, Piron-Prunier Florence, Suomi Fumi, Zhang David, Martinez-Lopez Nuria, Leboucq Nicolas, Bahr Angela, Azzarello-Burri Silvia, Reich Selina, Schöls Ludger, Polvikoski Tuomo M, Meyer Pierre, Larrieu Lise, Schaefer Andrew M, Alsaif Hessa S, Alyamani Suad, Zuchner Stephan, Barbosa Inês A, Deshpande Charu, Pyle Angela, Rauch Anita, Synofzik Matthis, Alkuraya Fowzan S, Rivier François, Ryten Mina, McFarland Robert, Delahodde Agnès, McWilliams Thomas G, Koenig Michel, Taylor Robert W

Abstract excerpt

BACKGROUND: Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy has been associated with a range of complex human diseases, yet congenital autophagy disorders are rare. METHODS: We performed a genetic, clinical, and...

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Identifiers

PMID: 34161705
DOI: 10.1056/NEJMoa1915722
PMCID: PMC7611730

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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