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Article

Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.

International journal of molecular sciences - 3 Jun 2021

Meunier Justine, Villar-Quiles Rocio-Nur, Duband-Goulet Isabelle, Ferreiro Ana

Abstract excerpt

Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the TRIP4 and ASCC1 genes, encoding, respectively, ASC-1 and ASCC1, two subunits of the ASC-1 (Activating Signal Cointegrator-1) complex. This complex is a poorly known transcriptional coregulator involved in transcriptional,...

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Identifiers

PMID: 34204919
DOI: 10.3390/ijms22116039
PMCID: PMC8199739

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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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