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Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
Péterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH. Péterfy M, et al. Among authors: doolittle mh. Nat Genet. 2007 Dec;39(12):1483-7. doi: 10.1038/ng.2007.24. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994020
Transgenic expression and genetic variation of Lmf1 affect LPL activity in mice and humans.
Hosseini M, Ehrhardt N, Weissglas-Volkov D, Lai CM, Mao HZ, Liao JL, Nikkola E, Bensadoun A, Taskinen MR, Doolittle MH, Pajukanta P, Péterfy M. Hosseini M, et al. Among authors: doolittle mh. Arterioscler Thromb Vasc Biol. 2012 May;32(5):1204-10. doi: 10.1161/ATVBAHA.112.245696. Epub 2012 Feb 16. Arterioscler Thromb Vasc Biol. 2012. PMID: 22345169 Free PMC article.
Mechanisms of lipase maturation.
Doolittle MH, Péterfy M. Doolittle MH, et al. Clin Lipidol. 2010 Feb 1;5(1):71-85. doi: 10.2217/clp.09.8. Clin Lipidol. 2010. PMID: 20543905 Free PMC article.
57 results