Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.

doi:10.1016/j.gim.2024.101120

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Article

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024

Ebstein Frédéric, Latypova Xenia, Sharon Hung Ka Ying, Prado Miguel A, Lee Byung-Hoon, Möller Sophie, Wendlandt Martin, Zieba Barbara A, Florenceau Laëtitia, Vignard Virginie, Poirier Léa, Toutain Bérénice, Moroni Isabella, Dubucs Charlotte, Chassaing Nicolas, Horvath Judit, Prokisch Holger, Küry Sébastien, Bézieau Stéphane, Paulo Joao A, Finley Daniel, Krüger Elke, Ghezzi Daniele, Isidor Bertrand

Abstract excerpt

PURPOSE: Imbalances in protein homeostasis affect human brain development, with the ubiquitin-proteasome system (UPS) and autophagy playing crucial roles in neurodevelopmental disorders (NDD). This study explores the impact of biallelic USP14 variants on neurodevelopment, focusing on its role as a key hub connecting UPS and autophagy. METHODS: Here, we identified biallelic USP14 variants in 4 individuals from 3...

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Identifiers

PMID: 38469793
DOI: 10.1016/j.gim.2024.101120
PMCID: PMC11241549

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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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