Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 24, Issue 19, Pages 5542-5554
Publisher
Oxford University Press (OUP)
Online
2015-07-22
DOI
10.1093/hmg/ddv285
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- BAR Domain Scaffolds in Dynamin-Mediated Membrane Fission
- (2014) Oliver Daumke et al. CELL
- Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization
- (2014) Stéphane Vassilopoulos et al. JOURNAL OF CELL BIOLOGY
- Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
- (2014) Belinda S. Cowling et al. JOURNAL OF CLINICAL INVESTIGATION
- The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
- (2013) E. M. Gibbs et al. Disease Models & Mechanisms
- The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
- (2013) Barbara Royer et al. EMBO REPORTS
- Dual Role of BAR Domain-containing Proteins in Regulating Vesicle Release Catalyzed by the GTPase, Dynamin-2
- (2013) Sylvia Neumann et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Cooperative Recruitment of Dynamin and BIN/Amphiphysin/Rvs (BAR) Domain-containing Proteins Leads to GTP-dependent Membrane Scission
- (2013) Michael Meinecke et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
- (2013) Elizabeth M. Gibbs et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Analyzing membrane remodeling and fission using supported bilayers with excess membrane reservoir
- (2013) Sylvia Neumann et al. Nature Protocols
- Dynamin 2 mutations in Charcot–Marie–Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination
- (2012) Páris N. M. Sidiropoulos et al. BRAIN
- Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
- (2012) Johann Böhm et al. HUMAN MUTATION
- Dynamin, a membrane-remodelling GTPase
- (2012) Shawn M. Ferguson et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Structural Insights into Dynamin-Mediated Membrane Fission
- (2012) Katja Faelber et al. STRUCTURE
- Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models
- (2012) Belinda S. Cowling et al. PLoS Genetics
- 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
- (2011) Belinda S. Cowling et al. AMERICAN JOURNAL OF PATHOLOGY
- A Pseudoatomic Model of the Dynamin Polymer Identifies a Hydrolysis-Dependent Powerstroke
- (2011) Joshua S. Chappie et al. CELL
- Crystal structure of nucleotide-free dynamin
- (2011) Katja Faelber et al. NATURE
- Molecular mechanism and physiological functions of clathrin-mediated endocytosis
- (2011) Harvey T. McMahon et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy
- (2011) Olga S. Koutsopoulos et al. PLoS One
- Differential curvature sensing and generating activities of dynamin isoforms provide opportunities for tissue-specific regulation
- (2011) Y.-W. Liu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
- (2011) Lama Al-Qusairi et al. Skeletal Muscle
- Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
- (2010) Anne Toussaint et al. ACTA NEUROPATHOLOGICA
- Supported Bilayers with Excess Membrane Reservoir: A Template for Reconstituting Membrane Budding and Fission
- (2010) Thomas J. Pucadyil et al. BIOPHYSICAL JOURNAL
- Direct dynamin–actin interactions regulate the actin cytoskeleton
- (2010) Changkyu Gu et al. EMBO JOURNAL
- Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients
- (2010) Jon A Kenniston et al. EMBO JOURNAL
- A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice
- (2010) Anne-Cécile Durieux et al. HUMAN MOLECULAR GENETICS
- Dynamin 2 Mutants Linked to Centronuclear Myopathies Form Abnormally Stable Polymers
- (2010) Lei Wang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Dynamin 2 and human diseases
- (2010) Anne-Cécile Durieux et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- G domain dimerization controls dynamin's assembly-stimulated GTPase activity
- (2010) Joshua S. Chappie et al. NATURE
- Dissecting dynamin's role in clathrin-mediated endocytosis
- (2009) Marcel Mettlen et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Membrane Insertion of the Pleckstrin Homology Domain Variable Loop 1 Is Critical for Dynamin-catalyzed Vesicle Scission
- (2009) Rajesh Ramachandran et al. MOLECULAR BIOLOGY OF THE CELL
- Cargo and Dynamin Regulate Clathrin-Coated Pit Maturation
- (2009) Dinah Loerke et al. PLOS BIOLOGY
- Isoform and Splice-Variant Specific Functions of Dynamin-2 Revealed by Analysis of Conditional Knock-Out Cells
- (2008) Ya-Wen Liu et al. MOLECULAR BIOLOGY OF THE CELL
- Exploiting position effects and the gypsy retrovirus insulator to engineer precisely expressed transgenes
- (2008) Michele Markstein et al. NATURE GENETICS
- Membrane Traffic and Muscle: Lessons from Human Disease
- (2008) James J. Dowling et al. TRAFFIC
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now