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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
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. Accogli A, et al. Among authors: lenk gm. Genet Med. 2024 May;26(5):101097. doi: 10.1016/j.gim.2024.101097. Epub 2024 Feb 5. Genet Med. 2024. PMID: 38334070 Free article.
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.
Helgadottir A, Thorleifsson G, Magnusson KP, Grétarsdottir S, Steinthorsdottir V, Manolescu A, Jones GT, Rinkel GJ, Blankensteijn JD, Ronkainen A, Jääskeläinen JE, Kyo Y, Lenk GM, Sakalihasan N, Kostulas K, Gottsäter A, Flex A, Stefansson H, Hansen T, Andersen G, Weinsheimer S, Borch-Johnsen K, Jorgensen T, Shah SH, Quyyumi AA, Granger CB, Reilly MP, Austin H, Levey AI, Vaccarino V, Palsdottir E, Walters GB, Jonsdottir T, Snorradottir S, Magnusdottir D, Gudmundsson G, Ferrell RE, Sveinbjornsdottir S, Hernesniemi J, Niemelä M, Limet R, Andersen K, Sigurdsson G, Benediktsson R, Verhoeven EL, Teijink JA, Grobbee DE, Rader DJ, Collier DA, Pedersen O, Pola R, Hillert J, Lindblad B, Valdimarsson EM, Magnadottir HB, Wijmenga C, Tromp G, Baas AF, Ruigrok YM, van Rij AM, Kuivaniemi H, Powell JT, Matthiasson SE, Gulcher JR, Thorgeirsson G, Kong A, Thorsteinsdottir U, Stefansson K. Helgadottir A, et al. Among authors: lenk gm. Nat Genet. 2008 Feb;40(2):217-24. doi: 10.1038/ng.72. Epub 2008 Jan 6. Nat Genet. 2008. PMID: 18176561
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH. Chow CY, et al. Among authors: lenk gm. Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010. Am J Hum Genet. 2009. PMID: 19118816 Free PMC article.
PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration.
Ferguson CJ, Lenk GM, Meisler MH. Ferguson CJ, et al. Among authors: lenk gm. Autophagy. 2010 Jan;6(1):170-1. doi: 10.4161/auto.6.1.10626. Epub 2010 Jan 13. Autophagy. 2010. PMID: 20009544 Free PMC article. Review. No abstract available.
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.
Zolov SN, Bridges D, Zhang Y, Lee WW, Riehle E, Verma R, Lenk GM, Converso-Baran K, Weide T, Albin RL, Saltiel AR, Meisler MH, Russell MW, Weisman LS. Zolov SN, et al. Among authors: lenk gm. Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17472-7. doi: 10.1073/pnas.1203106109. Epub 2012 Oct 9. Proc Natl Acad Sci U S A. 2012. PMID: 23047693 Free PMC article.
C9ORF72 expansion in a family with bipolar disorder.
Meisler MH, Grant AE, Jones JM, Lenk GM, He F, Todd PK, Kamali M, Albin RL, Lieberman AP, Langenecker SA, McInnis MG. Meisler MH, et al. Among authors: lenk gm. Bipolar Disord. 2013 May;15(3):326-32. doi: 10.1111/bdi.12063. Epub 2013 Apr 1. Bipolar Disord. 2013. PMID: 23551834 Free PMC article.
44 results