List of works - Guy M. Lenk

A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis

scientific article published on 29 August 2013

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

scientific article published in 2013

Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19.

scientific article

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

scientific article published on 08 June 2016

Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysms

scientific article

C9ORF72 expansion in a family with bipolar disorder

scientific article published on April 2013

CRISPR knockout screen implicates three genes in lysosome function

scientific article published on 03 July 2019

Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes

scientific article published on 14 December 2006

Cerebral hypomyelination associated with biallelic variants of FIG4

scientific article published on 28 February 2019

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

scientific article

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

scientific article

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

scientific article

Genome-wide approach to finding abdominal aortic aneurysm susceptibility genes in humans

scientific article published on November 2006

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

scientific article published on 01 November 2006

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

scientific article

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

scientific article

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

scientific article

Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.

scientific article

Murine Fig4 is dispensable for muscle development but required for muscle function

scientific article published on September 2013

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

scientific article

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

scientific article published on 23 March 2016

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

scientific article

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

scientific article published on 13 January 2010

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

scientific article

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

scientific article

Response

scientific article published on 29 December 2014

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

scientific article published on 05 March 2014

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

scientific article published on 06 February 2020

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

article

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

scientific article

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

scientific article

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

scientific article published on 25 April 2013

List of works by Guy M. Lenk

A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19.

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysms

C9ORF72 expansion in a family with bipolar disorder

CRISPR knockout screen implicates three genes in lysosome function

Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes

Cerebral hypomyelination associated with biallelic variants of FIG4

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

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

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

Genome-wide approach to finding abdominal aortic aneurysm susceptibility genes in humans

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

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

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

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

Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.

Murine Fig4 is dispensable for muscle development but required for muscle function

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

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

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

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

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

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

Response

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

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

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

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

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase