G. Lenk

发表

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

M. Meisler, J. Dowling, L. Weisman, 2011, PLoS genetics.

Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes

G. Vovis, K. Goddard, Qing Lu, 2006, Human Heredity.

Protective role of the lipid phosphatase Fig4 in the adult nervous system

M. Meisler, L. Havton, G. Lenk, 2018, Human molecular genetics.

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

M. Meisler, G. Lenk, C. J. Ferguson, 2009, Human molecular genetics.

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

M. Meisler, G. Lenk, C. J. Ferguson, 2011, The Journal of Neuroscience.

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

Robert H. Brown, J. Landers, M. Meisler, 2009, American journal of human genetics.

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

M. Meisler, L. Wrabetz, S. Previtali, 2014, Human molecular genetics.

Genetic predisposition for preterm PROM: Results of a large candidate-gene association study of mothers and their offspring

K. Goddard, Qing Lu, R. Romero, 2005 .

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

M. Meisler, G. Lenk, Guy M. Lenk, 2014, Methods in enzymology.

Lysosome enlargement during inhibition of the lipid kinase PIKfyve proceeds through lysosome coalescence

Callen T. Wallace, Simon C Watkins, R. Puertollano, 2018, Journal of Cell Science.

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

Jacy L. Wagnon, J. Parent, M. Meisler, 2020, Annals of neurology.

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

M. Meisler, J. Dowling, G. Lenk, 2012, Human molecular genetics.

Deleterious Variants of FIG 4 , a Phosphoinositide Phosphatase , in Patients with ALS Citation

Robert H. Brown, J. Landers, M. Meisler, 2008 .

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

R. Burgess, C. Lutz, S. Gray, 2021, The Journal of clinical investigation.

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

M. Meisler, J. Dowling, A. Reifler, 2013, Skeletal Muscle.

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

A. V. Vulto-van Silfhout, E. Haan, R. Gibbs, 2013, American journal of human genetics.

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

R. Albin, M. Meisler, A. Saltiel, 2012, Proceedings of the National Academy of Sciences.

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

M. Meisler, R. Guerrini, G. Lenk, 2014, Neurology.

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

H. Stefánsson, J. Gulcher, U. Thorsteinsdóttir, 2008, Nature Genetics.

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

I. Alafuzoff, H. Kuivaniemi, G. Tromp, 2007, Physiological genomics.

Basic research studies to understand aneurysm disease.

A. Boddy, H. Kuivaniemi, G. Lenk, 2008, Drug news & perspectives.

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

M. Ferrer, A. G. Garrity, Noel Southall, 2013, Developmental cell.

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

Gerard Tromp, Helena Kuivaniemi, Ramon Berguer, 2007, BMC Genomics.

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

M. Meisler, J. Twiss, A. Bolino, 2016, eLife.

G. Lenk, S. Stone, J. Waugh, 2019, Movement disorders clinical practice.

Cerebral hypomyelination associated with biallelic variants of FIG4

P. Lockhart, A. Vanderver, M. Meisler, 2019, Human mutation.

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

M. Meisler, R. Płoski, M. Rydzanicz, 2016, American journal of human genetics.

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c

M. Meisler, G. Lenk, Xu Cao, 2023, G3.

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.

M. Meisler, G. Lenk, 2022, Molecular genetics and metabolism.

CRISPR knockout screen implicates three genes in lysosome function

Michael J. Davis, J. Kitzman, J. Swanson, 2019, Scientific Reports.

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

W. Annaert, M. Meisler, G. Raposo, 2019, Journal of Cell Science.

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

M. Meisler, G. Lenk, R. Giger, 2016, Human molecular genetics.

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

D. MacArthur, M. Meisler, L. Waddell, 2014, Neuromuscular Disorders.

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

L. Biesecker, G. Coppola, M. Meisler, 2011, Brain : a journal of neurology.

Genome‐Wide Approach to Finding Abdominal Aortic Aneurysm Susceptibility Genes in Humans

H. Kuivaniemi, G. Tromp, G. Lenk, 2006, Annals of the New York Academy of Sciences.

C9ORF72 expansion in a family with bipolar disorder

M. McInnis, S. Langenecker, R. Albin, 2013, Bipolar disorders.

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

R. Ferrell, Ming D Li, H. Kuivaniemi, 2011, BMC Medical Genetics.

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

R. Berguer, H. Kuivaniemi, G. Tromp, 2006, Annals of the New York Academy of Sciences.

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

D. Carey, H. Kuivaniemi, G. Tromp, 2011, BMC Physiology.

Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome

Brittany C. Clawson, K. Yamakawa, J. Parent, 2013, PloS one.

Binding Sites for ETS Family of Transcription Factors Dominate the Promoter Regions of Differentially Expressed Genes in Abdominal Aortic Aneurysms

H. Kuivaniemi, G. Tromp, Z. Gatalica, 2009, Circulation. Cardiovascular genetics.

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

M. Meisler, G. Lenk, C. J. Ferguson, 2010, Autophagy.

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

J. Mindell, M. Meisler, G. Lenk, 2023, PLoS genetics.