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Altered cardiac electrophysiology and SUDEP in a model of Dravet syndromeIn 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 CMT4JNeuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm.Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms.Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19.Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms.Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysmsYunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphataseC9ORF72 expansion in a family with bipolar disorderPI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosisMurine Fig4 is dispensable for muscle development but required for muscle function.PtdIns(3,5)P2 and autophagy in mouse models of neurodegenerationRole of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.Genome-wide approach to finding abdominal aortic aneurysm susceptibility genes in humans.Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes.The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysmGlobal Expression Profiles in Human Normal and Aneurysmal Abdominal Aorta Based on Two Distinct Whole Genome Microarray PlatformsResponseCerebral hypomyelination associated with biallelic variants of FIG4CRISPR knockout screen implicates three genes in lysosome functionScn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome
P50
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P50
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hulumtues
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Guy M Lenk
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Guy M Lenk
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Guy M. Lenk
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Guy M Lenk
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Guy M Lenk
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Guy M. Lenk
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Guy M Lenk
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P1053
Q-1226-2016
P106
P1153
15837210900
P21
P31
P3829
P496
0000-0001-8092-1405