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

Developmental cell, 2013-09, Vol.26 (5), p.511-524

2013

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Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

PloS one, 2013-10, Vol.8 (10), p.e77843

2013

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

Human molecular genetics, 2009-12, Vol.18 (24), p.4868-4878

2009

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

Proceedings of the National Academy of Sciences - PNAS, 2012-10, Vol.109 (43), p.17472-17477

2012

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

American journal of human genetics, 2013-05, Vol.92 (5), p.781-791

2013

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Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

PLoS genetics, 2011-06, Vol.7 (6), p.e1002104-e1002104

2011

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CRISPR knockout screen implicates three genes in lysosome function

Scientific reports, 2019-07, Vol.9 (1), p.9609-10, Article 9609

2019

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

Human molecular genetics, 2015-01, Vol.24 (2), p.383-396

2015

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Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice

Molecular genetics and metabolism, 2022-12, Vol.137 (4), p.382-387

2022

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PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

eLife, 2016-03, Vol.5

2016

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Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c

G3 : genes - genomes - genetics, 2023-08, Vol.13 (8)

2023

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The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants

PLoS genetics, 2023-06, Vol.19 (6), p.e1010800-e1010800

2023

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AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model

The Journal of clinical investigation, 2021-06, Vol.131 (11), p.1-11

2021

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PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration

Autophagy, 2010-01, Vol.6 (1), p.170-171

2010

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Mouse Models of PI(3,5)P2 Deficiency with Impaired Lysosome Function

Methods in Enzymology, 2014, Vol.534, p.245-260

2014

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

Neurology, 2014-03, Vol.82 (12), p.1068-1075

2014

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Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms

BMC physiology, 2011-05, Vol.11 (1), p.9-9, Article 9

2011

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Protective role of the lipid phosphatase Fig4 in the adult nervous system

Human molecular genetics, 2018-07, Vol.27 (14), p.2443-2453

2018

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Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene

Human molecular genetics, 2016-01, Vol.25 (2), p.340-347

2016

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Basic research studies to understand aneurysm disease

Drug News & Perspectives, 2008-04, Vol.21 (3), p.142-148

2008

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Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4

The Journal of neuroscience, 2011-11, Vol.31 (48), p.17736-17751

2011

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

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

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

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

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

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

CRISPR knockout screen implicates three genes in lysosome function

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

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice

PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c

The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants

AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model

PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration

Mouse Models of PI(3,5)P2 Deficiency with Impaired Lysosome Function

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

Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms

Protective role of the lipid phosphatase Fig4 in the adult nervous system

Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene

Basic research studies to understand aneurysm disease

Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4

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