Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression

(2013) Aubree A. Ng et al.   HUMAN MOLECULAR GENETICS

The use of mammalian two-hybrid technologies for high-throughput drug screening

(2012) Sam Lievens et al.   METHODS

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

Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice

(2012) Leonela Amoasii et al.   PLoS Genetics

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

(2011) Vandana Gupta et al.   HUMAN MOLECULAR GENETICS

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

Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy

(2010) J.J. Dowling et al.   HUMAN MOLECULAR GENETICS

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

(2010) Karim Hnia et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

(2010) Valérie Tosch et al.   NEUROMUSCULAR DISORDERS

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

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

Membrane traffic in the secretory pathway

(2008) M. Vicinanza et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

MTMR9 Increases MTMR6 Enzyme Activity, Stability, and Role in Apoptosis

(2008) Jun Zou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice

(2008) F. L. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PtdIns5P regulation through evolution: roles in membrane trafficking?

(2008) Odile Lecompte et al.   TRENDS IN BIOCHEMICAL SCIENCES

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols