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

eLife, 2016-03, Vol.5

2016

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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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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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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Genetics in medicine, 2024-05, Vol.26 (5), p.101097, Article 101097

2024

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Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm

Physiological genomics, 2007-12, Vol.32 (1), p.45-57

2007

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Cerebral hypomyelination associated with biallelic variants of FIG4

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

2019

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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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C9ORF72 expansion in a family with bipolar disorder

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

2013

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

Movement disorders clinical practice (Hoboken, N.J.), 2019-07, Vol.6 (6), p.494-497

2019

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Global Expression Profiles in Human Normal and Aneurysmal Abdominal Aorta Based on Two Distinct Whole Genome Microarray Platforms

Annals of the New York Academy of Sciences, 2006-11, Vol.1085 (1), p.360-362

2006

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PIKfyve activity regulates reformation of terminal storage lysosomes from endolysosomes

Traffic (Copenhagen, Denmark), 2017-11, Vol.18 (11), p.747-757

2017

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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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Congenital CNS Hypomyelination in the Fig4 Null Mouse Is Rescued by Neuronal Expression of the PI(3,5)P2 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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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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Basic research studies to understand aneurysm disease

Drug news & perspectives, 2008-04, Vol.21 (3), p.142-148

2008

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

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

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

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

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

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

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

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm

Cerebral hypomyelination associated with biallelic variants of FIG4

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

C9ORF72 expansion in a family with bipolar disorder

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

Global Expression Profiles in Human Normal and Aneurysmal Abdominal Aorta Based on Two Distinct Whole Genome Microarray Platforms

PIKfyve activity regulates reformation of terminal storage lysosomes from endolysosomes

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

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

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

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

C9 ORF 72 expansion in a family with bipolar disorder

Basic research studies to understand aneurysm disease

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

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

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