Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
about
Pathogenic mechanisms in centronuclear myopathiesSkeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsDefective membrane remodeling in neuromuscular diseases: insights from animal modelsPhosphoinositides: tiny lipids with giant impact on cell regulationLoss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafishPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusThe specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability.Reducing dynamin 2 expression rescues X-linked centronuclear myopathyDifferential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C miceSPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyCentronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.Triadopathies: an emerging class of skeletal muscle diseases.Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotypeMyotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.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.Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in miceMyotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.Desminopathies: pathology and mechanisms.Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Extensive morphological and immunohistochemical characterization in myotubular myopathy.Protein kinetic signatures of the remodeling heart following isoproterenol stimulation.Desmin in muscle and associated diseases: beyond the structural function.Desmin related disease: a matter of cell survival failure.Identification of transcriptome signature for myocardial reductive stress.Gene Expression Profiles of Human Phosphotyrosine Phosphatases Consequent to Th1 Polarisation and Effector Function.Desmin and αB-crystallin interplay in the maintenance of mitochondrial homeostasis and cardiomyocyte survival.Defective autophagy and mTORC1 signaling in myotubularin null mice.Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs.Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle.Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.Myotubularins and associated neuromuscular diseasesCentronuclear myopathies under attack: A plethora of therapeutic targetsTamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
P2860
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P2860
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Myotubularin controls desmin i ...... uman and mouse skeletal muscle
@nl
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@ast
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@en
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@en-gb
type
label
Myotubularin controls desmin i ...... uman and mouse skeletal muscle
@nl
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@ast
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@en
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@en-gb
prefLabel
Myotubularin controls desmin i ...... uman and mouse skeletal muscle
@nl
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@ast
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@en
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@en-gb
P2093
P2860
P50
P921
P356
P1476
Myotubularin controls desmin i ...... man and mouse skeletal muscle.
@en
P2093
Bernard Payrastre
Helene Tronchère
Jocelyn Laporte
Kinga K Tomczak
P2860
P356
10.1172/JCI44021
P407
P577
2010-12-06T00:00:00Z