Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
Authors
Keywords
-
Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 124, Issue 3, Pages 1350-1363
Publisher
American Society for Clinical Investigation
Online
2014-02-26
DOI
10.1172/jci71206
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo
- (2013) L. Amoasii et al. JOURNAL OF CELL SCIENCE
- Geometric Catalysis of Membrane Fission Driven by Flexible Dynamin Rings
- (2013) A. V. Shnyrova et al. SCIENCE
- Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
- (2012) Johann Böhm et al. HUMAN MUTATION
- Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project
- (2012) Abdel Ayadi et al. MAMMALIAN GENOME
- Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice
- (2012) K. M. Fetalvero et al. MOLECULAR AND CELLULAR BIOLOGY
- Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models
- (2012) Belinda S. Cowling et al. PLoS Genetics
- Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice
- (2012) Leonela Amoasii 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
- Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
- (2011) Christopher R. Pierson et al. HUMAN MOLECULAR GENETICS
- Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy
- (2011) Ning Liu et al. JOURNAL OF CLINICAL INVESTIGATION
- Crystal structure of nucleotide-free dynamin
- (2011) Katja Faelber et al. NATURE
- Centronuclear Myopathies
- (2011) Norma B. Romero et al. Seminars in Pediatric Neurology
- 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
- 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
- Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
- (2010) Karim Hnia et al. JOURNAL OF CLINICAL INVESTIGATION
- MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
- (2010) A. H. Beggs et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Coordinated Actions of Actin and BAR Proteins Upstream of Dynamin at Endocytic Clathrin-Coated Pits
- (2009) Shawn Ferguson et al. DEVELOPMENTAL CELL
- T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
- (2009) L. Al-Qusairi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
- (2009) James J. Dowling et al. PLoS Genetics
- Centronuclear (myotubular) myopathy
- (2008) Heinz Jungbluth et al. Orphanet Journal of Rare Diseases
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now