{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:16:00Z","timestamp":1790615760529,"version":"4.1.0"},"reference-count":68,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T00:00:00Z","timestamp":1622678400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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, post-transcriptional or translational activities. Inherited defects in components of the ASC-1 complex have been associated with several autosomal recessive phenotypes, including severe and mild forms of striated muscle disease (congenital myopathy with or without myocardial involvement), but also cases diagnosed of motor neuron disease (spinal muscular atrophy). Additionally, antenatal bone fractures were present in the reported patients with ASCC1 mutations. Functional studies revealed that the ASC-1 subunit is a novel regulator of cell cycle, proliferation and growth in muscle and non-muscular cells. In this review, we summarize and discuss the available data on the clinical and histopathological phenotypes associated with inherited defects of the ASC-1 complex proteins, the known genotype\u2013phenotype correlations, the ASC-1 pathophysiological role, the puzzling question of motoneuron versus primary muscle involvement and potential future research avenues, illustrating the study of rare monogenic disorders as an interesting model paradigm to understand major physiological processes.<\/jats:p>","DOI":"10.3390\/ijms22116039","type":"journal-article","created":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T10:59:51Z","timestamp":1622717991000},"page":"6039","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases"],"prefix":"10.3390","volume":"22","author":[{"given":"Justine","family":"Meunier","sequence":"first","affiliation":[{"name":"Basic and Translational Myology Laboratory, UMR8251, University of Paris\/National Center for Scientific Research, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio-Nur","family":"Villar-Quiles","sequence":"additional","affiliation":[{"name":"Basic and Translational Myology Laboratory, UMR8251, University of Paris\/National Center for Scientific Research, 75013 Paris, France"},{"name":"Reference Center for Neuromuscular Disorders, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, APHP, Institute of Myology, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4752-1167","authenticated-orcid":false,"given":"Isabelle","family":"Duband-Goulet","sequence":"additional","affiliation":[{"name":"Basic and Translational Myology Laboratory, UMR8251, University of Paris\/National Center for Scientific Research, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2806-5386","authenticated-orcid":false,"given":"Ana","family":"Ferreiro","sequence":"additional","affiliation":[{"name":"Basic and Translational Myology Laboratory, UMR8251, University of Paris\/National Center for Scientific Research, 75013 Paris, France"},{"name":"Reference Center for Neuromuscular Disorders, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, APHP, Institute of Myology, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"B\u00f6hm, J., Vasli, N., Malfatti, E., Le Gras, S., Feger, C., Jost, B., Monnier, N., Brocard, J., Karasoy, H., and G\u00e9rard, M. 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