Murine Fig4 is dispensable for muscle development but required for muscle function

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration

(2012) C. J. Ferguson et al.   HUMAN MOLECULAR GENETICS

In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P

(2012) S. N. Zolov 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

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

(2011) Garth Nicholson et al.   BRAIN

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

Congenital CNS Hypomyelination in the Fig4 Null Mouse Is Rescued by Neuronal Expression of the PI(3,5)P2 Phosphatase Fig4

(2011) J. J. Winters et al.   JOURNAL OF NEUROSCIENCE

Phosphatidylinositol-3,5-Bisphosphate: No Longer the Poor PIP2

(2011) Cheuk Y. Ho et al.   TRAFFIC

Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J

(2011) Guy M. Lenk et al.   PLoS Genetics

Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies

(2011) Ilaria Vaccari et al.   PLoS Genetics

The role of MTMR14 in autophagy and in muscle disease

(2010) Elizabeth M. Gibbs et al.   Autophagy

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

ArPIKfyve Regulates Sac3 Protein Abundance and Turnover

(2010) Ognian C. Ikonomov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phosphatidylinositol 3,5-Bisphosphate (PI(3,5)P2) Potentiates Cardiac Contractility via Activation of the Ryanodine Receptor

(2010) Chad D. Touchberry et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

(2009) Cole J. Ferguson et al.   HUMAN MOLECULAR GENETICS

Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca2+ homeostasis

(2009) Jinhua Shen et al.   NATURE CELL BIOLOGY

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

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse

(2008) Natsuko Jin et al.   EMBO JOURNAL