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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Teerna Bhattacharyya, Avishek Ghosh, Shailya Verma, Padinjat Raghu, Ramanathan Sowdhamini
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Elsevier 2023-01-01
Цуврал:	Current Research in Structural Biology
Нөхцлүүд:	Phosphatase Ligand binding Protein-ligand interactions Myotubular myopathy Patient mutations
Онлайн хандалт:	http://www.sciencedirect.com/science/article/pii/S2665928X23000065
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!