Structural rationale to understand the effect of disease-associated mutations on Myotubularin

Myotubularin or MTM1 is a lipid phosphatase that regulates vesicular trafficking in the cell. The MTM1 gene is mutated in a severe form of muscular disease, X-linked myotubular myopathy or XLMTM, affecting 1 in 50,000 newborn males worldwide. There have been several studies on the disease pathology...

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Auteurs principaux:	Teerna Bhattacharyya, Avishek Ghosh, Shailya Verma, Padinjat Raghu, Ramanathan Sowdhamini
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2023-01-01
Collection:	Current Research in Structural Biology
Sujets:	Phosphatase Ligand binding Protein-ligand interactions Myotubular myopathy Patient mutations
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2665928X23000065
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