In this study, using a cellular model of X-linked centronuclear myopathy, in which the phosphoinositide phosphatase MTM1 has been knockout, we unravel an unexpected pathway connecting MTM1 to ...

Caused by variations in the MTM1 gene, XLMTM is a rare genetic disease present from birth that causes extreme muscle weakness. Due to the severe breathing problems that develop, patients with XLMTM ...

KT430 delivers a functional copy of the MTM1 gene through a new MyoAAV capsid to treat X-linked myotubular myopathy. Kate Therapeutics will use Series A funding and the licence deal to develop genetic ...

KT430 is designed to use a MyoAAV capsid to deliver a functional copy of the MTM1 gene to treat the rare and potentially fatal neuromuscular disease called X-linked myotubular myopathy (XLMTM).

However, it is unclear which of the various reported BIN1 isoforms are involved, and whether BIN1 function is regulated by its putative binding partners MTM1 (myotubularin), a phosphoinositide ...

ALSO READ: 5 immunity boosting winter foods to add to your diet The genetic defect present in this disease affects the lipid phosphatase MTM1. This enzyme controls the turnover of a signaling ...

The genetic defect present in this disease affects the lipid phosphatase MTM1. This enzyme controls the turnover of a signaling lipid on endosomes, vesicle-like structures in cells involved in the ...

Role of MTM1-mediated endosomal PI(3)P signaling in mitochondrial metabolic rewiring via reshaping the ER in response to starvation. In fed cells, early endosomes form contacts with ER tubules.

Show Full Article The genetic defect present in this disease affects the lipid phosphatase MTM1. This enzyme controls the turnover of a signaling lipid on endosomes, vesicle-like structures in cells ...