Results 1 to 10 of about 98 (69)
The Role of Myotubularin-Related Lipid Phosphatases in Cancer Pathogenesis
Experimental and Molecular PathologyMyotubularin-related proteins (MTMRs) comprise a family of lipid phosphatases using phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate as their substrate.
Lenka Doubravská, Marie Macůrková
exaly +3 more sources
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]
Annals of Child Neurology, 2022 Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo +10 more
doaj +1 more source
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. [PDF]
PLoS Genetics, 2013 X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin ...
Vandana A Gupta +11 more
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Natural history of a mouse model of X-linked myotubular myopathy
Disease Models & Mechanisms, 2022 X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene.
Ege Sarikaya +9 more
doaj +1 more source
iScience, 2023 Summary: Symbiotic nitrogen fixation is a complex process in which legumes interact with rhizobia under nitrogen starvation. In this study, we found that myotubularin phosphatase (MtMP) is mainly expressed in roots and nodules in Medicago truncatula ...
Qixia Xue +10 more
doaj +1 more source
Defective membrane remodeling in neuromuscular diseases: insights from animal models. [PDF]
PLoS Genetics, 2012 Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases.
Belinda S Cowling +3 more
doaj +1 more source
Structural rationale to understand the effect of disease-associated mutations on Myotubularin
Current Research in Structural Biology, 2023 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.
Teerna Bhattacharyya +4 more
doaj +1 more source
Stem Cell Research, 2023 Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber.
Liani G. Devito +4 more
doaj +1 more source
Respiratory care in myotubular myopathy
ERJ Open Research, 2021 X-linked myotubular myopathy is a neuromuscular condition caused by pathogenic variants in the MTM1 gene, which encodes for myotubularin, a phosphatidylinositol 3-phosphate phosphatase.
Hui-leng Tan, Elaine Chan
doaj +1 more source
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. [PDF]
PLoS Genetics, 2012 Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the involvement of MTM1 enzymatic activity on XLCNM phenotypes.
Leonela Amoasii +11 more
doaj +1 more source