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

SuSPect: Enhanced Prediction of Single Amino Acid Variant (SAV) Phenotype Using Network Features

(2014) Christopher M. Yates et al.   JOURNAL OF MOLECULAR BIOLOGY

Amphiphysin 2 (BIN1) in physiology and diseases

(2014) Ivana Prokic et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Suspected Congenital Centronuclear Myopathy in an Arabian-cross Foal

(2014) F. Polle et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

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

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

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

Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo

(2013) L. Amoasii et al.   JOURNAL OF CELL SCIENCE

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

(2013) Johann Böhm et al.   PLoS Genetics

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

(2012) Jorge Oliveira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

(2012) Johann Böhm et al.   HUMAN MUTATION

Centronuclear myopathy in a Border collie dog

(2012) S. Eminaga et al.   JOURNAL OF SMALL ANIMAL PRACTICE

Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice

(2012) K. M. Fetalvero et al.   MOLECULAR AND CELLULAR BIOLOGY

Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide

(2012) Marie Maurer et al.   PLoS One

Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8

(2012) J. Zou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology

(2012) Karim Hnia et al.   TRENDS IN MOLECULAR MEDICINE

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

Modulation of Local PtdIns3P Levels by the PI Phosphatase MTMR3 Regulates Constitutive Autophagy

(2010) Naoko Taguchi-Atarashi et al.   TRAFFIC

Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy

(2009) Isabelle Vergne et al.   EMBO JOURNAL

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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

Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle

(2008) May Christine Malicdan et al.   NEUROMUSCULAR DISORDERS