Related references
Note: Only part of the references are listed.Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo
Leonela Amoasii et al.
JOURNAL OF CELL SCIENCE (2013)
Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice
Kristina M. Fetalvero et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
Geometric Catalysis of Membrane Fission Driven by Flexible Dynamin Rings
Anna V. Shnyrova et al.
SCIENCE (2013)
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
Christopher R. Pierson et al.
HUMAN MOLECULAR GENETICS (2012)
Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
Johann Boehm et al.
HUMAN MUTATION (2012)
Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project
Abdel Ayadi et al.
MAMMALIAN GENOME (2012)
Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models
Belinda S. Cowling et al.
PLOS GENETICS (2012)
Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice
Leonela Amoasii et al.
PLOS GENETICS (2012)
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Anne Toussaint et al.
ACTA NEUROPATHOLOGICA (2011)
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
Belinda S. Cowling et al.
AMERICAN JOURNAL OF PATHOLOGY (2011)
Mice lacking microRNA 133a develop dynamin 2-dependent centronuclear myopathy
Ning Liu et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
Karim Hnia et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Crystal structure of nucleotide-free dynamin
Katja Faelber et al.
NATURE (2011)
Centronuclear Myopathies
Norma B. Romero et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2011)
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
Lama Al-Qusairi et al.
SKELETAL MUSCLE (2011)
Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients
Jon A. Kenniston et al.
EMBO JOURNAL (2010)
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice
Anne-Cecile Durieux et al.
HUMAN MOLECULAR GENETICS (2010)
Dynamin 2 Mutants Linked to Centronuclear Myopathies Form Abnormally Stable Polymers
Lei Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
Alan H. Beggs et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Coordinated Actions of Actin and BAR Proteins Upstream of Dynamin at Endocytic Clathrin-Coated Pits
Shawn Ferguson et al.
DEVELOPMENTAL CELL (2009)
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
Lama Al-Qusairi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
James J. Dowling et al.
PLOS GENETICS (2009)
Centronuclear (myotubular) myopathy
Heinz Jungbluth et al.
ORPHANET JOURNAL OF RARE DISEASES (2008)
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Anne-Sophie Nicot et al.
NATURE GENETICS (2007)
GTP-dependent twisting of dynamin implicates constriction and tension in membrane fission
Aurelien Roux et al.
NATURE (2006)
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun et al.
NATURE GENETICS (2005)
Temporally controlled targeted somatic mutagenesis in skeletal muscles of the mouse
M Schuler et al.
GENESIS (2005)
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S Züchner et al.
NATURE GENETICS (2005)
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism
TC Tsai et al.
NEUROMUSCULAR DISORDERS (2005)
The dynamin superfamily: Universal membrane tubulation and fission molecules?
GJK Praefcke et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
A Buj-Bello et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Diagnosis of X-linked myotubular myopathy by detection of myotubularin
J Laporte et al.
ANNALS OF NEUROLOGY (2001)
Regulated interactions between dynamin and the actin-binding protein cortactin modulate cell shape
MA McNiven et al.
JOURNAL OF CELL BIOLOGY (2000)
Share Paper
