Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy

(2015) Hyun Ju Lim et al.   CELL TRANSPLANTATION

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

(2015) G Shelton et al.   Skeletal Muscle

Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice

(2014) Michael W. Lawlor et al.   AMERICAN JOURNAL OF PATHOLOGY

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

(2014) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

(2014) M. K. Childers et al.   Science Translational Medicine

Pathogenic Mechanisms in Centronuclear Myopathies

(2014) Heinz Jungbluth et al.   Frontiers in Aging Neuroscience

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways

(2013) Lama Al-Qusairi et al.   FASEB JOURNAL

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

(2013) Romain Joubert et al.   HUMAN MOLECULAR GENETICS

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

(2013) Michael W. Lawlor et al.   HUMAN MOLECULAR GENETICS

Extensive morphological and immunohistochemical characterization in myotubular myopathy

(2013) Minobu Shichiji et al.   Brain and Behavior

Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment

(2012) Michael W. Lawlor et al.   AMERICAN JOURNAL OF PATHOLOGY

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

(2012) J. J. Dowling et al.   Disease Models & Mechanisms

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

Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice

(2011) Michael W. Lawlor 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

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy

(2011) Caroline A. Sewry et al.   NEUROMUSCULAR DISORDERS

T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

(2011) Lama Al-Qusairi et al.   Skeletal Muscle

The myotubularin family of lipid phosphatases in disease and in spermatogenesis

(2010) Dolores D. Mruk et al.   BIOCHEMICAL JOURNAL

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

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

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

(2008) Jorge A. Bevilacqua et al.   ACTA NEUROPATHOLOGICA

Muscleblind-Like Proteins

(2008) Ian Holt et al.   AMERICAN JOURNAL OF PATHOLOGY

Function and dysfunction of the PI system in membrane trafficking

(2008) Mariella Vicinanza et al.   EMBO JOURNAL

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

(2008) Anna Buj-Bello et al.   HUMAN MOLECULAR GENETICS

Nicotinic acetylcholine receptor is internalized via a Rac-dependent, dynamin-independent endocytic pathway

(2008) Sudha Kumari et al.   JOURNAL OF CELL BIOLOGY

Endosomal Phosphoinositides and Human Diseases

(2008) Anne-Sophie Nicot et al.   TRAFFIC