Davignon L et al. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum. Mol. Genet. 2016; 25:1559–1573. PMID: 27008887.
Knierim E et al. Mutations in subunits of the activating signal cointegrator 1 complex are associated with prenatal spinal muscular atrophy and congenital bone fractures. Am. J. Hum. Genet. 2016; 98:473-489. PMID: 26924529.
Villar-Quiles RN et al. ASC-1 is a cell cycle regulator associated with severe and mild forms of myopathy. Ann. Neurol. 2020; 87: 217-232. PMID: 31794073.