Associate Research Scientist
Human Genetics
[email protected]
Available to mentor
Guy M Lenk
Associate Research Scientist
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Boyek G, Orbach R, Gottlieb K, Duff J, Lenk G, Bönnemann C. Neuromuscular Disorders, 2024 Oct; 43: 104441.580Journal Article110VP FIG4 loss of function: Unraveling the phenotypic spectrum for clinical trial readiness
DOI:10.1016/j.nmd.2024.07.589 -
Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. HGG Adv, 2024 Jul 18; 5 (3): 100324Journal ArticleA model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.
DOI:10.1016/j.xhgg.2024.100324 PMID: 38956874 -
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Genet Med, 2024 May; 26 (5): 101097Journal ArticleBiallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
DOI:10.1016/j.gim.2024.101097 PMID: 38334070 -
Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. 2024 Mar 27;PreprintPredictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations.
DOI:10.1101/2024.03.25.586600 PMID: 38585737 -
Cao X, Lenk GM, Meisler MH. G3 (Bethesda), 2023 Aug 9; 13 (8):Journal ArticleAltered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
DOI:10.1093/g3journal/jkad007 PMID: 36691351 -
Cao X, Lenk GM, Mikusevic V, Mindell JA, Meisler MH. PLoS Genet, 2023 Jun; 19 (6): e1010800Journal ArticleThe chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
DOI:10.1371/journal.pgen.1010800 PMID: 37363915 -
Lenk GM, Meisler MH. Mol Genet Metab, 2022 Dec; 137 (4): 382 - 387.Journal ArticleChloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
DOI:10.1016/j.ymgme.2022.11.004 PMID: 36434903 -
Presa M, Bailey RM, Davis C, Murphy T, Cook J, Walls R, Wilpan H, Bogdanik L, Lenk GM, Burgess RW, Gray SJ, Lutz C. J Clin Invest, 2021 Jun 1; 131 (11):Journal ArticleAAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
DOI:10.1172/JCI137159 PMID: 33878035
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
