about
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathyDefective membrane remodeling in neuromuscular diseases: insights from animal modelsReciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication SyndromesThe caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle.Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assemblyReducing dynamin 2 expression rescues X-linked centronuclear myopathyAntisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.Regulation of the transcriptional coactivator FHL2 licenses activation of the androgen receptor in castrate-resistant prostate cancer.FHL3 binds MyoD and negatively regulates myotube formation.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.Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in miceIdentification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis.Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.WANTED - Dead or alive: Myotubularins, a large disease-associated protein family.Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathyDefects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathiesCentronuclear myopathies under attack: A plethora of therapeutic targetsTamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathyIdentification of FHL1 as a therapeutic target for Duchenne muscular dystrophyDiminuer l’expression de la dynamine 2Implanted Myoblast Survival Is Dependent on the Degree of Vascularization in a Novel Delayed Implantation/Prevascularization Tissue Engineering ModelAllele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell PhenotypesTranslational medicine in neuromuscular disorders: from academia to industryAmphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Belinda Cowling
@ast
Belinda Cowling
@en
Belinda Cowling
@es
Belinda Cowling
@nl
Belinda Cowling
@sl
type
label
Belinda Cowling
@ast
Belinda Cowling
@en
Belinda Cowling
@es
Belinda Cowling
@nl
Belinda Cowling
@sl
prefLabel
Belinda Cowling
@ast
Belinda Cowling
@en
Belinda Cowling
@es
Belinda Cowling
@nl
Belinda Cowling
@sl
P1053
O-2730-2016
P106
P21
P31
P3829
P496
0000-0001-6915-2596