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Guy M. Lenk
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The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
A Helgadottir, G Thorleifsson, KP Magnusson, S Grétarsdottir, ...
Nature genetics 40 (2), 217-224, 2008
8562008
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
CY Chow, JE Landers, SK Bergren, PC Sapp, AE Grant, JM Jones, ...
The American Journal of Human Genetics 84 (1), 85-88, 2009
4972009
A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis
M Samie, X Wang, X Zhang, A Goschka, X Li, X Cheng, E Gregg, M Azar, ...
Developmental cell 26 (5), 511-524, 2013
2892013
In vivo, Pikfyve generates PI (3, 5) P2, which serves as both a signaling lipid and the major precursor for PI5P
SN Zolov, D Bridges, Y Zhang, WW Lee, E Riehle, R Verma, GM Lenk, ...
Proceedings of the National Academy of Sciences 109 (43), 17472-17477, 2012
2422012
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
CJ Ferguson, GM Lenk, MH Meisler
Human molecular genetics 18 (24), 4868-4878, 2009
2342009
Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms
GM Lenk, G Tromp, S Weinsheimer, Z Gatalica, R Berguer, H Kuivaniemi
BMC genomics 8, 1-12, 2007
1902007
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome
DS Auerbach, J Jones, BC Clawson, J Offord, GM Lenk, I Ogiwara, ...
PloS one 8 (10), e77843, 2013
1672013
Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes
KAB Goddard, G Tromp, R Romero, JM Olson, Q Lu, Z Xu, N Parimi, ...
Human heredity 63 (1), 1-16, 2007
1612007
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
PM Campeau, GM Lenk, JT Lu, Y Bae, L Burrage, P Turnpenny, ...
The American Journal of Human Genetics 92 (5), 781-791, 2013
1402013
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
G Nicholson, GM Lenk, SW Reddel, AE Grant, CF Towne, CJ Ferguson, ...
Brain 134 (7), 1959-1971, 2011
1292011
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J
GM Lenk, CJ Ferguson, CY Chow, N Jin, JM Jones, AE Grant, SN Zolov, ...
PLoS genetics 7 (6), e1002104, 2011
1292011
Lysosome enlargement during inhibition of the lipid kinase PIKfyve proceeds through lysosome coalescence
CH Choy, G Saffi, MA Gray, C Wallace, RM Dayam, ZYA Ou, G Lenk, ...
Journal of cell science 131 (10), jcs213587, 2018
1162018
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome
GM Lenk, P Jafar‐Nejad, SF Hill, LD Huffman, CE Smolen, JL Wagnon, ...
Annals of neurology 87 (3), 339-346, 2020
1062020
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
S Baulac, GM Lenk, B Dufresnois, B Ouled Amar Bencheikh, P Couarch, ...
Neurology 82 (12), 1068-1075, 2014
862014
C9 ORF 72 expansion in a family with bipolar disorder
MH Meisler, AE Grant, JM Jones, GM Lenk, F He, PK Todd, M Kamali, ...
Bipolar disorders 15 (3), 326-332, 2013
662013
Basic research studies to understand aneurysm disease.
AM Boddy, GM Lenk, JH Lillvis, J Nischan, Y Kyo, H Kuivaniemi
Drug news & perspectives 21 (3), 142-148, 2008
662008
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration
CJ Ferguson, GM Lenk, JM Jones, AE Grant, JJ Winters, JJ Dowling, ...
Human molecular genetics 21 (16), 3525-3534, 2012
602012
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
I Vaccari, A Carbone, SC Previtali, YA Mironova, V Alberizzi, R Noseda, ...
Human molecular genetics 24 (2), 383-396, 2015
532015
Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI (3, 5) P2 phosphatase Fig4
JJ Winters, CJ Ferguson, GM Lenk, VI Giger-Mateeva, P Shrager, ...
Journal of Neuroscience 31 (48), 17736-17751, 2011
522011
Biallelic mutations of VAC14 in pediatric-onset neurological disease
GM Lenk, K Szymanska, G Debska-Vielhaber, M Rydzanicz, A Walczak, ...
The American Journal of Human Genetics 99 (1), 188-194, 2016
492016
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