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One or more keywords matched the following items that are connected to Beggs, Alan
Item TypeName
Academic Article Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Academic Article MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Academic Article Large duplication in MTM1 associated with myotubular myopathy.
Academic Article Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Academic Article X-linked myotubular and centronuclear myopathies.
Academic Article Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
Academic Article Muscle function in a canine model of X-linked myotubular myopathy.
Academic Article Clinical utility gene card for: Centronuclear and myotubular myopathies.
Academic Article Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Academic Article T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Academic Article Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Academic Article AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Academic Article Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Concept Protein Tyrosine Phosphatases, Non-Receptor
Academic Article Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Academic Article Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Academic Article Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Academic Article Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
Academic Article SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Academic Article Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Academic Article Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.
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  • Protein Tyrosine Phosphatases Non Receptor
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.