Article
Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Oct 2021
Blázquez-Bernal Águeda, Fernandez-Costa Juan M, Bargiela Ariadna, Artero Ruben
Abstract excerpt
Limb-girdle muscular dystrophy D2 (LGMDD2) is an ultrarare autosomal dominant myopathy caused by mutation of the normal stop codon of the TNPO3 nuclear importin. The mutant protein carries a 15 amino acid C-terminal extension associated with pathogenicity. Here we report the first animal model of the disease by expressing the human mutant TNPO3 gene in Drosophila musculature or motor neurons and concomitantly...
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