ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Villar-Quiles, Rocío Nur; Catervi, Fabio; Cabet, Eva; Juntas-Morales, Raul; Genetti, Casie C.A.; Gidaro, Teresa; Koparir, Asuman; Yüksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce-Hoffman, Emma; Lornage, Xavière; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma Beatriz; Beggs, Alan A.H.; Servais, Lara; Cossée, Mireille; Olivé, Montse; Böhm, Johann; Duband-Goulet, Isabelle; Ferreiro, Ana

doi:doi/10.1002/ana.25660

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Article révisé par les pairs

Résumé :

Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations.

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