Citations for
1LMF1, LPPLD
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia.
Plengpanich W, Muanpetch S, Charoen S, Kiateprungvej A, Khovidhunkit W.
Mol Genet Metab Rep 23:100576. doi: 10.1016/j.ymgmr.2020.100576. eCollection 2020 Jun. 2020
2GPIHBP1, LMF1, LPL
Structure of lipoprotein lipase in complex with GPIHBP1.
Arora R, Nimonkar AV, Baird D, Wang C, Chiu CH, Horton PA, Hanrahan S, Cubbon R, Weldon S, Tschantz WR, Mueller S, Brunner R, Lehr P, Meier P, Ottl J, Voznesensky A, Pandey P, Smith TM, Stojanovic A, Flyer A, Benson TE, Romanowski MJ, Trauger JW.
Proc Natl Acad Sci U S A 116(21):10360-10365. doi: 10.1073/pnas.1820171116. Epub 2019 May 9. 2019
3LMF1, LPPLD
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking.
Chen WW, Yang Q, Li XY, Shi XL, Pu N, Lu GT, Tong ZH, Chen JM, Li WQ.
Lipids Health Dis 18(1):68. doi: 10.1186/s12944-019-1012-9. 2019
4LMF1, LPPLD
Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.
Péterfy M, Bedoya C, Giacobbe C, Pagano C, Gentile M, Rubba P, Fortunato G, Di Taranto MD.
J Clin Lipidol 12(5):1253-1259. doi: 10.1016/j.jacl.2018.07.008. Epub 2018 Jul 25. 2018
5LMF1
Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum.
Roberts BS, Babilonia-Rosa MA, Broadwell LJ, Wu MJ, Neher SB.
EMBO J 37(19). pii: e97379. doi: 10.15252/embj.201797379. Epub 2018 Aug 1. 2018
6ATF6, LMF1
Lipase maturation factor 1 (lmf1) is induced by endoplasmic reticulum stress through activating transcription factor 6α (Atf6α) signaling.
Mao HZ, Ehrhardt N, Bedoya C, Gomez JA, DeZwaan-McCabe D, Mungrue IN, Kaufman RJ, Rutkowski DT, Péterfy M.
J Biol Chem 289(35):24417-27. doi: 10.1074/jbc.M114.588764. Epub 2014 Jul 17. 2014
7LMF1
Purification, cellular levels, and functional domains of lipase maturation factor 1.
Babilonia-Rosa MA, Neher SB.
Biochem Biophys Res Commun 450(1):423-8. doi: 10.1016/j.bbrc.2014.05.136. Epub 2014 Jun 5. 2014
8LMF1
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.
Arterioscler Thromb Vasc Biol 32(5):1204-10. doi: 10.1161/ATVBAHA.112.245696. Epub 2012 Feb 16. 2012
9LMF1
Lipase maturation factor LMF1, membrane topology and interaction with lipase proteins in the endoplasmic reticulum.
Doolittle MH, Neher SB, Ben-Zeev O, Ling-Liao J, Gallagher CM, Hosseini M, Yin F, Wong H, Walter P, Péterfy M.
J Biol Chem 284(48):33623-33. Epub 2009 Sep 26.PMID: 19783858 2009
10LMF1, LPPLD
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
Cefalù AB, Noto D, Arpi ML, Yin F, Spina R, Hilden H, Barbagallo CM, Carroccio A, Tarugi P, Squatrito S, Vigneri R, Taskinen MR, Péterfy M, Averna MR.
J Clin Endocrinol Metab 94(11):4584-90. Epub 2009 Oct 9. Erratum in: J Clin Endocrinol Metab. 2010 Jan;95(1):465. PMID: 19820022 2009
11LMF1
The metabolism of triglyceride-rich lipoproteins revisited: New players, new insight.
Dallinga-Thie GM, Franssen R, Mooij HL, Visser ME, Hassing HC, Peelman F, Kastelein JJ, Péterfy M, Nieuwdorp M.
Atherosclerosis therosclerosis. 2009 Dec 29. [Epub ahead of print]PMID: 20117784 2009
12LMF1
A quantitative assay measuring the function of lipase maturation factor 1.
Yin F, Doolittle MH, Péterfy M.
J Lipid Res 50(11):2265-9. Epub 2009 May 26.PMID: 19471043 2009
13LMF1
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
PŽterfy 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.
Nat Genet 39(12):1483-7. Epub 2007 Nov 11. 2007
14ATR16, CRAMP1L, DDX11L1, DECR2, GNG13, HAGHL, HBAP1, HBM, HN1L, HS3ST6, IFT140, IGFALS, ITFG3, JMJD8, LMF1, LUC7L, MEIOB, MRPL28, MSLNL, NARFL, POLR3K, RAB40C, RHBDL1, RPL23AP5, RPS20P2, RPS3AP2, RPUSD1, SEPX1, SPSB3, TJP1P, TMEM8, TPSB2, TPSD1, TPSG1, TPSP1, TPSP3, UNKL, WFIKKN1, ZSIG37P
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR.
Hum Mol Genet 10(4):339-52. 2001