Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

(2014) S. Baulac et al.   NEUROLOGY

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

(2013) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phosphatidylinositol 3,5-bisphosphate: Low abundance, high significance

(2013) Amber J. McCartney et al.   BIOESSAYS

A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis

(2013) Mohammad Samie et al.   DEVELOPMENTAL CELL

Inositol lipids: from an archaeal origin to phosphatidylinositol 3,5-bisphosphate faults in human disease

(2013) Robert H. Michell   FEBS Journal

Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice

(2013) Maurizio D’Antonio et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Novel FIG4 mutations in Yunis–Varon syndrome

(2013) Junya Nakajima et al.   JOURNAL OF HUMAN GENETICS

DDIT4/REDD1/RTP801 Is a Novel Negative Regulator of Schwann Cell Myelination

(2013) R. Noseda et al.   JOURNAL OF NEUROSCIENCE

Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

(2013) Ellen Cottenie et al.   NEUROMUSCULAR DISORDERS

Aberrant Schwann Cell Lipid Metabolism Linked to Mitochondrial Deficits Leads to Axon Degeneration and Neuropathy

(2013) Andreu Viader et al.   NEURON

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

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

Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking

(2012) Samuel M. Lee et al.   JOURNAL OF CELL BIOLOGY

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Charcot–Marie–Tooth disease and intracellular traffic

(2012) Cecilia Bucci et al.   PROGRESS IN NEUROBIOLOGY

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

Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

(2011) Emyr Lloyd-Evans et al.   CELL CALCIUM

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons

(2011) Istvan Katona et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Lysosomal exocytosis in Schwann cells contributes to axon remyelination

(2011) Gang Chen et al.   GLIA

Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways

(2011) S. M. Lee et al.   JOURNAL OF CELL SCIENCE

Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice

(2011) Qing Yan et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

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

Phosphatidylinositol 3,5-bisphosphate and Fab1p/PIKfyve underPPIn endo-lysosome function

(2009) Stephen K. Dove et al.   BIOCHEMICAL JOURNAL

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

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

Cholesterol Regulates the Endoplasmic Reticulum Exit of the Major Membrane Protein P0 Required for Peripheral Myelin Compaction

(2009) G. Saher et al.   JOURNAL OF NEUROSCIENCE

Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination

(2009) A. Bolis et al.   JOURNAL OF NEUROSCIENCE

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

(2008) Xuebao Zhang et al.   BRAIN

Progeny of Olig2-Expressing Progenitors in the Gray and White Matter of the Adult Mouse Cerebral Cortex

(2008) L. Dimou et al.   JOURNAL OF NEUROSCIENCE

Ablation of the UPR-Mediator CHOP Restores Motor Function and Reduces Demyelination in Charcot-Marie-Tooth 1B Mice

(2008) Maria Pennuto et al.   NEURON