Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy [PDF]
JCI InsightThe MTM1 gene encodes myotubularin (MTM1), a phosphatidylinositol 3-phosphate [PI(3)P] lipid phosphatase. Loss-of-function mutations in MTM1 cause X-linked myotubular myopathy (XLMTM), a severe congenital myopathy with no available cure and a poorly ...
Foteini Moschovaki-Filippidou +5 more
doaj +2 more sources
MTMR6 downregulation contributes to cisplatin resistance in oral squamous cell carcinoma [PDF]
Cancer Cell InternationalBackground The therapeutic effectiveness of cisplatin, a widely used chemotherapy drug for oral squamous cell carcinoma (OSCC), is often compromised by resistance, making it difficult to predict treatment outcomes.
Kah Young Lee +7 more
doaj +2 more sources
Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease [PDF]
JCI InsightX-linked myotubular myopathy (XLMTM) is a rare genetic disorder that typically presents at birth with progressive muscle weakness and respiratory difficulties and is caused by myotubularin 1 (MTM1) gene mutations.
Andrew Shearer +10 more
doaj +2 more sources
A novel SBF1 missense mutation causes autosomal dominant Charcot–Marie–Tooth disease type 4B3 [PDF]
Frontiers in NeurologyIntroductionWe present a case of autosomal dominant Charcot–Marie–Tooth disease type 4B3 (CMT4B3) in a family caused by a novel SBF1 missense mutation.MethodsTwo patients, a mother and daughter, were recruited from our hospital.
Huaqi Liu +7 more
doaj +2 more sources
Detection of Myotubularin Phosphatases Activity on Phosphoinositides in vitro and ex vivo
, 2008 International audiencePhosphoinositides (PPIn) are important regulators of cellular processes like intracellular protein transport, cellular proliferation, apoptosis, and cytoskeletal organization.
Hélène Tronchère +7 more
core +3 more sources
Recent advances of myotubularin-related (MTMR) protein family in cardiovascular diseases
Frontiers in Cardiovascular MedicineBelonging to a lipid phosphatase family containing 16 members, myotubularin-related proteins (MTMRs) are widely expressed in a variety of tissues and organs. MTMRs preferentially hydrolyzes phosphatidylinositol 3-monophosphate and phosphatidylinositol (3,
Jia Wang +6 more
doaj +3 more sources
Myo-Inositol modulates AKT signalling, mitochondrial protein expression and intracellular Ca²⁺dynamics in human dermal fibroblasts [PDF]
Scientific ReportsMyo-Inositol (Myo-Ins) is increasingly recognised as a metabolic regulator, yet its cellular actions under physiological conditions remain incompletely understood. Here, we investigated the effects of Myo-Ins in primary human dermal fibroblasts.
Paola Zanfardino +4 more
doaj +2 more sources
Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9 [PDF]
Proceedings of the National Academy of Sciences, 2003 Myotubularin-related protein 7 (MTMR7) is a member of the myotubularin (MTM) family. The cDNA encoding the mouse MTMR7 contains 1,983 bp, and the predicted protein has a deduced molecular mass of 75.6 kDa. Northern and Western blot analyses showed that MTMR7 is expressed mainly in brain and mouse neuroblastoma N1E-115 cells ...
Yasuhiro, Mochizuki, Philip W, Majerus
openaire +5 more sources
MTMR7 regulates human spermatogonial stem cells proliferation and migration via targeting FLNB. [PDF]
PLoS ONEIn the testes, spermatogonial stem cells (SSCs) maintain normal spermatogenesis through the dual potential of self-renewal and differentiation, which is essential for male fertility.
Nianchao Zhou +9 more
doaj +2 more sources
Membrane targeting of sorting nexins and myotubularin related protein 3.
, 2005 Membrane targeting of sorting nexins and myotubularin related protein ...
Aura. Burian (7958858)
core +4 more sources