Articles with "defects asc" as a keyword



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

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Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms22116039

Abstract: 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… read more here.

Keywords: inherited defects; neuromuscular diseases; complex congenital; asc complex ... See more keywords