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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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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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Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

Annals of neurology, 2020-03, Vol.87 (3), p.339-346

2020

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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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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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Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms

BMC genomics, 2007-07, Vol.8 (1), p.237-237, Article 237

2007

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The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation

Journal of cell science, 2019-02, Vol.132 (5)

2019

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

Human molecular genetics, 2012-08, Vol.21 (16), p.3525-3534

2012

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

Brain (London, England : 1878), 2011-07, Vol.134 (7), p.1959-1971

2011

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Store and neighborhood differences in retailer compliance with a local staple foods ordinance

BMC public health, 2020-02, Vol.20 (1), p.172-172, Article 172

2020

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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American journal of human genetics, 2016-07, Vol.99 (1), p.188-194

2016

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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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Highly Sensitive Fetal Goat Tongue Cell Line for Detection and Isolation of Foot-and-Mouth Disease Virus

Journal of Clinical Microbiology, 2009-10, Vol.47 (10), p.3156-3160

2009

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Susceptibility of koi × crucian carp and koi × goldfish hybrids to koi herpesvirus (KHV) and the development of KHV disease (KHVD)

Journal of fish diseases, 2010-03, Vol.33 (3), p.267-272

2010

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A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

HGG advances, 2024-07, Vol.5 (3), p.100324, Article 100324

2024

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Latent Classes of Young Adults Based on Use of Multiple Types of Tobacco and Nicotine Products

Nicotine & tobacco research, 2014-08, Vol.16 (8), p.1056-1062

2014

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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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Threshold value of subepicardial adipose tissue to detect insulin resistance in obese children

International Journal of Obesity, 2009-04, Vol.33 (4), p.440-446

2009

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Validation of a KHV antibody enzyme‐linked immunosorbent assay (ELISA)

Journal of fish diseases, 2017-11, Vol.40 (11), p.1511-1527

2017

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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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Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

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

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and 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

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

Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms

The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation

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

CRISPR knockout screen implicates three genes in lysosome function

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

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

Store and neighborhood differences in retailer compliance with a local staple foods ordinance

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

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

Highly Sensitive Fetal Goat Tongue Cell Line for Detection and Isolation of Foot-and-Mouth Disease Virus

Susceptibility of koi × crucian carp and koi × goldfish hybrids to koi herpesvirus (KHV) and the development of KHV disease (KHVD)

A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

Latent Classes of Young Adults Based on Use of Multiple Types of Tobacco and Nicotine Products

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

Threshold value of subepicardial adipose tissue to detect insulin resistance in obese children

Validation of a KHV antibody enzyme‐linked immunosorbent assay (ELISA)

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

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