Associated Papers
Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.
Suzuki T et al.
Endocrine Journal, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update.
Dabravolski SA et al.
Sage Open Medicine, 2024
Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.
Rodríguez-Gutiérrez PG et al.
International Journal of Molecular Sciences, 2022
Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.
Taghizadeh E et al.
Biochemical Genetics, 2022
A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia.
Guo D et al.
Frontiers in Genetics, 2022
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia.
Plengpanich W et al.
Molecular Genetics and Metabolism Reports, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking.
Chen WW et al.
Lipids in Health and Disease, 2019
A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.
Liu Y et al.
Journal of Atherosclerosis and Thrombosis, 2019
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Genetic predisposition of human plasma triglyceride concentrations.
Schwarzova L et al.
Physiological Research, 2015
Purification, cellular levels, and functional domains of lipase maturation factor 1.
Babilonia-Rosa MA et al.
Biochemical and Biophysical Research Communications, 2014
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP et al.
Journal of Internal Medicine, 2012
Allelic and phenotypic spectrum of plasma triglycerides.
Johansen CT et al.
Biochimica Et Biophysica Acta, 2012
Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism.
Péterfy M
Biochimica Et Biophysica Acta, 2012
Lipase maturation factor 1 is required for endothelial lipase activity.
Ben-Zeev O et al.
Journal of Lipid Research, 2011
Lipase maturation factor 1: structure and role in lipase folding and assembly.
Doolittle MH et al.
Current Opinion in Lipidology, 2010
A quantitative assay measuring the function of lipase maturation factor 1.
Yin F et al.
Journal of Lipid Research, 2009
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
Cefalù AB et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
Péterfy M et al.
Nature Genetics, 2007
JCL Roundtable: Hypertriglyceridemia due to defects in lipoprotein lipase function.
Brown WV et al.
Journal of Clinical Lipidology, 0
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
Cefalù AB et al.
Journal of Clinical Lipidology, 0
A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis.
Tanaka M et al.
Journal of Clinical Lipidology, 0
Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia.
Bedoya C et al.
Journal of Clinical Lipidology, 0
Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.
Gong Z et al.
Journal of Clinical Lipidology, 0