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

eLife, 2016-03, Vol.5

2016

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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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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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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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Correction: The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation (doi:10.1242/jcs.229500)

Journal of cell science, 2019-03, Vol.132 (6)

2019

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

HGG advances, 2024-07, p.100324, Article 100324

2024

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In vivo, Pikfyve generates PI(3,5)P 2 , 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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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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Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al

Human mutation, 2019-05, Vol.40 (5), p.619-630

2019

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Response

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.360

2015

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Response

Neuromuscular disorders : NMD, 2014, Vol.25 (4), p.360-360

2014

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PIP.sub.2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

eLife, 2016-03, Vol.5

2016

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C9 ORF 72 expansion in a family with bipolar disorder

Bipolar disorders, 2013-05, Vol.15 (3), p.326-332

2013

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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P sub(2) phosphatase FIG4

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

2011

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Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J: e1002104

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

2011

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Response

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.360-360

2015

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Response

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.360

2015

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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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Refinement of the genetic susceptibility loci for abdominal aortic aneurysms

Lenk, Guy M

2007

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ProQuest

VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation

Movement disorders clinical practice, 2019, Vol.6 (6), p.494-497

2019

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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

CRISPR knockout screen implicates three genes in lysosome function

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

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

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

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

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

Correction: The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation (doi:10.1242/jcs.229500)

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

In vivo, Pikfyve generates PI(3,5)P 2 , which serves as both a signaling lipid and the major precursor for PI5P

Congenital CNS Hypomyelination in the Fig4 Null Mouse Is Rescued by Neuronal Expression of the PI(3,5)P 2 Phosphatase Fig4

Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al

Response

Response

PIP.sub.2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

C9 ORF 72 expansion in a family with bipolar disorder

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P sub(2) phosphatase FIG4

Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J: e1002104

Response

Response

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

Refinement of the genetic susceptibility loci for abdominal aortic aneurysms

VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation

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