| Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador. | Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador.
Garay-García K, Gaete PV, Mendivil CO. | 06/18/2022 |
| Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase Maturation Factor 1 (LMF1) concentration in children with chronic kidney disease. | Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase Maturation Factor 1 (LMF1) concentration in children with chronic kidney disease.
Roszkowska-Bjanid D, Dyga K, Świętochowska E, Bjanid O, Szczepańska M., Free PMC Article | 01/29/2022 |
| rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia | New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.
Serveaux Dancer M, Di Filippo M, Marmontel O, Valéro R, Piombo Rivarola MDC, Peretti N, Caussy C, Krempf M, Vergès B, Mahl M, Marçais C, Moulin P, Charrière S. | 10/12/2019 |
| LMF1 is needed for secretion of some ER client proteins that require reduction of non-native disulfides during their folding. | Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum.
Roberts BS, Babilonia-Rosa MA, Broadwell LJ, Wu MJ, Neher SB., Free PMC Article | 10/5/2019 |
| A heterozygous LMF1 nonsense variant was found in a hypertriglyceridemia-acute pancreatitis patient with severe obesity and heavy smoking, highlighting an important interplay between genetic and lifestyle factors in the etiology of hypertriglyceridemia. | 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., Free PMC Article | 07/13/2019 |
| Compound heterozygous mutation of LMF1 gene is associated with Hypertriglyceridemia. | A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.
Liu Y, Xu J, Tao W, Yu R, Zhang X., Free PMC Article | 06/15/2019 |
| Triglyceride-raising variant alleles of the LMF1 encoding lipase maturation factor 1, associated with clinical Cardiovascular endpoints. | Genetics of Triglycerides and the Risk of Atherosclerosis.
Dron JS, Hegele RA., Free PMC Article | 01/13/2018 |
| Our results suggest that LMF1 mutations are involved in a substantial proportion of cases with severe primary hypertriglyceridemia, putting together the moderate-aggressive effect of rare mutations with polymorphisms classically associated with this disease. | [Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].
Lamiquiz-Moneo I, Bea AM, Mateo-Gallego R, Baila-Rueda L, Cenarro A, Pocoví M, Civeira F, de Castro-Orós I. | 12/17/2016 |
| Thus we provide evidence for the critical role of the N-terminus of LMF1 for the maturation of LPL and relevant ratio of chaperone to substrate. | Purification, cellular levels, and functional domains of lipase maturation factor 1.
Babilonia-Rosa MA, Neher SB., Free PMC Article | 09/27/2014 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Results show that cotransfection of LPL with wild-type Lmf1 restores its ability to support normal lipase maturation. | A quantitative assay measuring the function of lipase maturation factor 1.
Yin F, Doolittle MH, Péterfy M., Free PMC Article | 03/22/2010 |
| Second novel pathogenic mutation in LMF1 gene in a patient with severe hypertriglyceridemia. | 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., Free PMC Article | 01/21/2010 |