| scholarly article | Q13442814 |
| P819 | ADS bibcode | 2009PNAS..10618763A |
| P356 | DOI | 10.1073/PNAS.0900705106 |
| P932 | PMC publication ID | 2773964 |
| P698 | PubMed publication ID | 19846786 |
| P5875 | ResearchGate publication ID | 38027661 |
| P50 | author | Jean-Louis Mandel | Q2279559 |
| Nadia Messaddeq | Q30004633 | ||
| Anna Buj-Bello | Q30004637 | ||
| Alan H. Beggs | Q37368773 | ||
| Norbert Weiss | Q41835769 | ||
| Despina Sanoudou | Q54109040 | ||
| Lama Al-Qusairi | Q125294621 | ||
| P2093 | author name string | Christine Kretz | |
| Jocelyn Laporte | |||
| Anne Toussaint | |||
| Bruno Allard | |||
| Céline Berbey | |||
| Vincent Jacquemond | |||
| P2860 | cites work | Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate | Q22254632 |
| The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1 | Q24300087 | ||
| Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle | Q24309508 | ||
| Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila | Q24600060 | ||
| Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy | Q27313067 | ||
| Phosphoinositides in cell regulation and membrane dynamics | Q27861051 | ||
| MTM1 mutations in X-linked myotubular myopathy | Q28143326 | ||
| Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy | Q28239405 | ||
| X-linked myotubular and centronuclear myopathies | Q28263434 | ||
| Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy | Q28267252 | ||
| Mutations in dynamin 2 cause dominant centronuclear myopathy | Q28277269 | ||
| A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast | Q28279868 | ||
| AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis | Q28508977 | ||
| Caveolin-3 associates with developing T-tubules during muscle differentiation | Q28511690 | ||
| The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice | Q28592271 | ||
| The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies | Q33682391 | ||
| Indo-1 fluorescence signals elicited by membrane depolarization in enzymatically isolated mouse skeletal muscle fibers | Q33907241 | ||
| Calsequestrin and the calcium release channel of skeletal and cardiac muscle | Q33976992 | ||
| Excitation-contraction coupling from the 1950s into the new millennium. | Q33998846 | ||
| The beta 1a subunit is essential for the assembly of dihydropyridine-receptor arrays in skeletal muscle | Q34144818 | ||
| Intramembrane charge movement and L-type calcium current in skeletal muscle fibers isolated from control and mdx mice | Q34180105 | ||
| Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling | Q34244881 | ||
| Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells | Q34281754 | ||
| Phosphatidylinositol 3-phosphate indirectly activates KCa3.1 via 14 amino acids in the carboxy terminus of KCa3.1. | Q34298326 | ||
| Abnormal features in skeletal muscle from mice lacking mitsugumin29. | Q36326127 | ||
| Deficiency of triad junction and contraction in mutant skeletal muscle lacking junctophilin type 1. | Q36376912 | ||
| The role of Ca2+ in muscle cell damage | Q36420086 | ||
| Myotubularin phosphatases: policing 3-phosphoinositides | Q36530570 | ||
| Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking | Q36796937 | ||
| Centronuclear (myotubular) myopathy | Q36948074 | ||
| Endosomal phosphoinositides and human diseases | Q37024588 | ||
| Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm | Q37099504 | ||
| Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle | Q40710117 | ||
| Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway | Q40852967 | ||
| Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. | Q44274834 | ||
| Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. | Q46101159 | ||
| "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy | Q46196931 | ||
| Nitric oxide synthase inhibition affects sarcoplasmic reticulum Ca2+ release in skeletal muscle fibres from mouse. | Q46580518 | ||
| Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor. | Q52519047 | ||
| Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene | Q61794284 | ||
| Simultaneous maturation of transverse tubules and sarcoplasmic reticulum during muscle differentiation in the mouse | Q67931157 | ||
| Intracellular calcium signals measured with indo-1 in isolated skeletal muscle fibres from control and mdx mice | Q73087615 | ||
| Triadins modulate intracellular Ca(2+) homeostasis but are not essential for excitation-contraction coupling in skeletal muscle | Q81549711 | ||
| P433 | issue | 44 | |
| P407 | language of work or name | English | Q1860 |
| P1104 | number of pages | 6 | |
| P304 | page(s) | 18763-18768 | |
| P577 | publication date | 2009-10-21 | |
| P1433 | published in | Proceedings of the National Academy of Sciences of the United States of America | Q1146531 |
| P1476 | title | T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase | |
| P478 | volume | 106 |
| Q58124945 | A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice |
| Q91557387 | AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy |
| Q30855431 | Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice |
| Q37883261 | Barfly: sculpting membranes at the Drosophila neuromuscular junction |
| Q97870309 | Broader Implications of Progressive Liver Dysfunction and Lethal Sepsis in Two Boys following Systemic High-Dose AAV |
| Q37502210 | Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. |
| Q36050192 | Cavin4b/Murcb Is Required for Skeletal Muscle Development and Function in Zebrafish. |
| Q47349900 | Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. |
| Q58713722 | Centronuclear myopathies under attack: A plethora of therapeutic targets |
| Q34447103 | Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide |
| Q26824526 | Congenital myopathies: an update |
| Q104289829 | Current Clinical Applications of in vivo Gene Therapy with AAVs |
| Q61443553 | Current methods for the maturation of induced pluripotent stem cell-derived cardiomyocytes |
| Q39762830 | Defective excitation-contraction coupling is partially responsible for impaired contractility in hindlimb muscles of Stac3 knockout mice. |
| Q27003427 | Defective membrane remodeling in neuromuscular diseases: insights from animal models |
| Q57387328 | Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies |
| Q35853122 | Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease |
| Q30634133 | Depression of voltage-activated Ca2+ release in skeletal muscle by activation of a voltage-sensing phosphatase |
| Q38263986 | Desmin in muscle and associated diseases: beyond the structural function. |
| Q33708695 | Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice |
| Q24293780 | Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores |
| Q37686342 | Dynamin 2 and human diseases. |
| Q36709135 | Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. |
| Q42046918 | Excitation-Contraction Coupling Alterations in Myopathies |
| Q37407306 | Extensive morphological and immunohistochemical characterization in myotubular myopathy. |
| Q42598841 | Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs |
| Q39004675 | Gene therapy in myotubular myopathy: promising progress and future directions |
| Q33926944 | Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. |
| Q47601966 | Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy. |
| Q30834629 | In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy. |
| Q34838354 | Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness |
| Q34756083 | Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice |
| Q50161380 | Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice |
| Q34093219 | MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers |
| Q35142864 | Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy |
| Q39533985 | Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. |
| Q35688645 | Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype |
| Q37351972 | Murine Fig4 is dispensable for muscle development but required for muscle function |
| Q36250493 | Muscle function in a canine model of X-linked myotubular myopathy |
| Q36241876 | Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy |
| Q47205244 | Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. |
| Q36359231 | Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. |
| Q24313412 | Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle |
| Q35011121 | Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate |
| Q36204138 | Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. |
| Q58001922 | Myotubularins and associated neuromuscular diseases |
| Q34542692 | N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. |
| Q30805305 | PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models |
| Q21131067 | Pathogenic mechanisms in centronuclear myopathies |
| Q28087567 | Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus |
| Q36312041 | Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice |
| Q37515114 | Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice |
| Q64077122 | Phosphodiesterase 5 inhibition improves contractile function and restores transverse tubule loss and catecholamine responsiveness in heart failure |
| Q27343059 | Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance |
| Q54409979 | Phosphoinositide substrates of myotubularin affect voltage-activated Ca²⁺ release in skeletal muscle. |
| Q38588189 | Phosphoinositides in Ca(2+) signaling and excitation-contraction coupling in skeletal muscle: an old player and newcomers. |
| Q35923504 | Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype. |
| Q40589371 | Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex |
| Q42681353 | Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization |
| Q30573077 | Reducing dynamin 2 expression rescues X-linked centronuclear myopathy |
| Q53577198 | Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. |
| Q34030749 | SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy |
| Q87860987 | SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling |
| Q36302421 | Sarcolipin deletion exacerbates soleus muscle atrophy and weakness in phospholamban overexpressing mice |
| Q51744193 | Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice. |
| Q26773024 | Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons |
| Q35166273 | T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases |
| Q59125219 | Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy |
| Q59134779 | Tamoxifen therapy in a murine model of myotubular myopathy |
| Q37438545 | The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish. |
| Q24315018 | The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies |
| Q33914205 | The role of PI3P phosphatases in the regulation of autophagy |
| Q55054578 | The structure and function of cardiac t-tubules in health and disease. |
| Q30499359 | The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies |
| Q36990246 | Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. |
| Q35340211 | Triadopathies: an emerging class of skeletal muscle diseases |
| Q35060580 | X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene |
| Q30494835 | Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. |
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