Lista de obras - Guy M. Lenk - Dominio Público Uruguay

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

artículo científico publicado en 2013

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

artículo científico publicado en 2016

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

artículo científico publicado en 2009

C9ORF72 expansion in a family with bipolar disorder

artículo científico publicado en 2013

CRISPR knockout screen implicates three genes in lysosome function

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Response

scientific article published on 29 December 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Lista de obras de 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