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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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Uloženo v:
Hlavní autoři: Teerna Bhattacharyya, Avishek Ghosh, Shailya Verma, Padinjat Raghu, Ramanathan Sowdhamini
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2023-01-01
Edice:Current Research in Structural Biology
Témata:
Phosphatase
Ligand binding
Protein-ligand interactions
Myotubular myopathy
Patient mutations
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2665928X23000065
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