Adult-Onset Myopathy with Constitutive Activation of Akt following the Loss of hnRNP-U
Sign Up to like & getrecommendations! Published in 2020 at "iScience"
DOI: 10.1016/j.isci.2020.101319
Abstract: Summary Skeletal muscle has the remarkable ability to modulate its mass in response to changes in nutritional input, functional utilization, systemic disease, and age. This is achieved by the coordination of transcriptional and post-transcriptional networks… read more here.
Keywords: adult onset; activation akt; muscle; constitutive activation ... See more keywords
A novel DNAJB6 mutation causes dominantly inherited distal‐onset myopathy and compromises DNAJB6 function
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.13001
Abstract: Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb‐girdle muscular dystrophy or distal‐onset myopathy. read more here.
Keywords: distal onset; novel dnajb6; dnajb6 mutation; onset myopathy ... See more keywords