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A 1-month-old infant with chylomicronemia due to gene mutation treated by plasmapheresis
Annals of Pediatric Endocrinology & Metabolism, ISSN 2287-1012, 03/2017, Volume 22, Issue 1, pp. 68 - 71
Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular...
Chylomicronemia | GPIHBP1 | Plasmapheresis
Chylomicronemia | GPIHBP1 | Plasmapheresis
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2019, Volume 116, Issue 5, pp. 1723 - 1732
Lipoprotein lipase (LPL) is responsible for the intravascular processing of triglyceride-rich lipoproteins. The LPL within capillaries is bound to GPIHBP1, an...
X-ray crystallography | Lipoproteins | Triglycerides | Lipase | GPIHBP1 | HEPARIN-BINDING | CLEARING FACTOR | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | lipase | PANCREATIC LIPASE | triglycerides | IDENTIFICATION | LPL GENE | RICH LIPOPROTEINS | BINDING PROTEIN-1 GPIHBP1 | UROKINASE RECEPTOR | lipoproteins | INTERFACIAL ACTIVATION | Hydrolysis | Glycosylphosphatidylinositols | Physiological aspects | Structure | Methods | Crystallization | Lipoprotein lipase | Hydrophobicity | Electrostatic properties | Endothelial cells | Proteins | Domains | Hypertriglyceridemia | pH | Mutation | Capillaries | Electron density | Biological Sciences | PNAS Plus
X-ray crystallography | Lipoproteins | Triglycerides | Lipase | GPIHBP1 | HEPARIN-BINDING | CLEARING FACTOR | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | lipase | PANCREATIC LIPASE | triglycerides | IDENTIFICATION | LPL GENE | RICH LIPOPROTEINS | BINDING PROTEIN-1 GPIHBP1 | UROKINASE RECEPTOR | lipoproteins | INTERFACIAL ACTIVATION | Hydrolysis | Glycosylphosphatidylinositols | Physiological aspects | Structure | Methods | Crystallization | Lipoprotein lipase | Hydrophobicity | Electrostatic properties | Endothelial cells | Proteins | Domains | Hypertriglyceridemia | pH | Mutation | Capillaries | Electron density | Biological Sciences | PNAS Plus
Journal Article
Circulation Journal, ISSN 1346-9843, 2018, Volume 82, Issue 11, pp. 2861 - 2871
Background: Lipoprotein lipase (LPL) plays an important role in triglyceride metabolism. It is translocated across endothelial cells to reach the luminal...
DNA methyltransferase 1 (DNMT1) | Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) | Lipoprotein lipase (LPL) | Atherosclerosis | MicroRNA-377 | CELLS | CARDIAC & CARDIOVASCULAR SYSTEMS | ANGIOPOIETIN-LIKE 4 | RISK | LIPOPROTEIN-LIPASE | HYPERTRIGLYCERIDEMIA | LIPID-ACCUMULATION | GENE | MUTATIONS | EXPRESSION | GPIHBP1
DNA methyltransferase 1 (DNMT1) | Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) | Lipoprotein lipase (LPL) | Atherosclerosis | MicroRNA-377 | CELLS | CARDIAC & CARDIOVASCULAR SYSTEMS | ANGIOPOIETIN-LIKE 4 | RISK | LIPOPROTEIN-LIPASE | HYPERTRIGLYCERIDEMIA | LIPID-ACCUMULATION | GENE | MUTATIONS | EXPRESSION | GPIHBP1
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2019, Volume 116, Issue 5, pp. 1480 - 1482
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 10/2019
Journal Article
Circulation Research, ISSN 0009-7330, 02/2015, Volume 116, Issue 4, pp. 624 - 632
RATIONALE:GPIHBP1, a GPI-anchored protein of capillary endothelial cells, binds lipoprotein lipase (LPL) in the subendothelial spaces and shuttles it to the...
Hypertriglyceridemia | GPIHBP1 protein | Protein multimerization | Chylomicrons | Lipoprotein lipase | Triglycerides | Endothelial cells | CELLS | endothelial cells | DOMAIN | CARDIAC & CARDIOVASCULAR SYSTEMS | protein multimerization | hypertriglyceridemia | PROTEIN INTERFACES | TOXINS | CYSTEINE | triglycerides | CHYLOMICRONEMIA | CANCER-THERAPY | PREDICTION | lipoprotein lipase | UROKINASE RECEPTOR | PERIPHERAL VASCULAR DISEASE | MONOCLONAL-ANTIBODIES | HEMATOLOGY | chylomicrons | Cysteine | Cricetulus | Humans | Protein Multimerization | Hyperlipoproteinemia Type I - enzymology | Receptors, Lipoprotein - genetics | Models, Molecular | Rats | Drosophila - cytology | Mutation, Missense | Hyperlipoproteinemia Type I - genetics | Receptors, Lipoprotein - metabolism | Receptors, Lipoprotein - chemistry | Animals | Human Umbilical Vein Endothelial Cells - enzymology | Transfection | Phosphoinositide Phospholipase C - metabolism | Protein Binding | Protein Conformation | Drosophila - metabolism | Binding Sites | Lipoprotein Lipase - metabolism | CHO Cells | multimerization | lipids and lipoprotein metabolism | endothelial cell | chylomicron | GPIHBP1
Hypertriglyceridemia | GPIHBP1 protein | Protein multimerization | Chylomicrons | Lipoprotein lipase | Triglycerides | Endothelial cells | CELLS | endothelial cells | DOMAIN | CARDIAC & CARDIOVASCULAR SYSTEMS | protein multimerization | hypertriglyceridemia | PROTEIN INTERFACES | TOXINS | CYSTEINE | triglycerides | CHYLOMICRONEMIA | CANCER-THERAPY | PREDICTION | lipoprotein lipase | UROKINASE RECEPTOR | PERIPHERAL VASCULAR DISEASE | MONOCLONAL-ANTIBODIES | HEMATOLOGY | chylomicrons | Cysteine | Cricetulus | Humans | Protein Multimerization | Hyperlipoproteinemia Type I - enzymology | Receptors, Lipoprotein - genetics | Models, Molecular | Rats | Drosophila - cytology | Mutation, Missense | Hyperlipoproteinemia Type I - genetics | Receptors, Lipoprotein - metabolism | Receptors, Lipoprotein - chemistry | Animals | Human Umbilical Vein Endothelial Cells - enzymology | Transfection | Phosphoinositide Phospholipase C - metabolism | Protein Binding | Protein Conformation | Drosophila - metabolism | Binding Sites | Lipoprotein Lipase - metabolism | CHO Cells | multimerization | lipids and lipoprotein metabolism | endothelial cell | chylomicron | GPIHBP1
Journal Article
CIRCULATION RESEARCH, ISSN 0009-7330, 11/2018, Volume 123, Issue 11, pp. 1192 - 1195
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 01/2019, Volume 13, Issue 1, pp. 62 - 69
Autoantibodies against glycosylphosphatidylinositol-anchored high-density lipoprotein–binding protein 1 (GPIHBP1) cause chylomicronemia by blocking the ability...
Chylomicronemia | Autoantibodies | Hypertriglyceridemia | Interferon β1a | GPIHBP1 | interferon β1a | hypertriglyceridemia | autoantibodies | chylomicronemia
Chylomicronemia | Autoantibodies | Hypertriglyceridemia | Interferon β1a | GPIHBP1 | interferon β1a | hypertriglyceridemia | autoantibodies | chylomicronemia
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 12/2018, Volume 487, pp. 33 - 40
Increased plasma triglyceride serves as an independent risk factor for cardiovascular disease (CVD). Lipoprotein lipase (LPL), which hydrolyzes circulating...
Lipoprotein lipase | Lipid metabolism | GPIHBP1 | DOMAIN | RECEPTOR | CHYLOMICRONEMIA | HYPERTRIGLYCERIDEMIA | PREGNANCY | GENE | BINDING PROTEIN-1 GPIHBP1 | ENDOTHELIAL-CELLS | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | ADIPOSE-TISSUE | Receptors, Lipoprotein - deficiency | Humans | Lipoproteins - metabolism | Receptors, Lipoprotein - genetics | Receptors, Lipoprotein - metabolism | Triglycerides - metabolism | Enzymes | Medical colleges | Gene mutations | Physiological aspects | Triglycerides | Protein binding
Lipoprotein lipase | Lipid metabolism | GPIHBP1 | DOMAIN | RECEPTOR | CHYLOMICRONEMIA | HYPERTRIGLYCERIDEMIA | PREGNANCY | GENE | BINDING PROTEIN-1 GPIHBP1 | ENDOTHELIAL-CELLS | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | ADIPOSE-TISSUE | Receptors, Lipoprotein - deficiency | Humans | Lipoproteins - metabolism | Receptors, Lipoprotein - genetics | Receptors, Lipoprotein - metabolism | Triglycerides - metabolism | Enzymes | Medical colleges | Gene mutations | Physiological aspects | Triglycerides | Protein binding
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 2016, Volume 10, Issue 1, pp. 92 - 100.e1
Background Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) has been demonstrated to be essential for the in vivo...
Cardiovascular | Lipoprotein lipase activity | Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) | Recurrent pancreatitis | Severe hypertriglyceridemia | SUBSTITUTION | LPL | MULTIMERIZATION | APOA5 | Glycosylphosphatidy-linositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1) | DEFICIENCY | DELETION | BINDING PROTEIN-1 GPIHBP1 | PHARMACOLOGY & PHARMACY | LIPOPROTEIN-LIPASE GENE | FAMILIAL CHYLOMICRONEMIA | Recurrence | Acute Disease | Hypertriglyceridemia - genetics | Humans | Receptors, Lipoprotein - genetics | Male | Mutation, Missense | Pancreatitis - complications | Young Adult | Pancreatitis - genetics | Hypertriglyceridemia - complications | Base Sequence | Adolescent | Adult | Female | Child | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Severe pertriglyceridemia
Cardiovascular | Lipoprotein lipase activity | Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) | Recurrent pancreatitis | Severe hypertriglyceridemia | SUBSTITUTION | LPL | MULTIMERIZATION | APOA5 | Glycosylphosphatidy-linositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1) | DEFICIENCY | DELETION | BINDING PROTEIN-1 GPIHBP1 | PHARMACOLOGY & PHARMACY | LIPOPROTEIN-LIPASE GENE | FAMILIAL CHYLOMICRONEMIA | Recurrence | Acute Disease | Hypertriglyceridemia - genetics | Humans | Receptors, Lipoprotein - genetics | Male | Mutation, Missense | Pancreatitis - complications | Young Adult | Pancreatitis - genetics | Hypertriglyceridemia - complications | Base Sequence | Adolescent | Adult | Female | Child | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Severe pertriglyceridemia
Journal Article
Animal Biotechnology, ISSN 1049-5398, 2018, pp. 1 - 5
Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) is among the many candidate genes for regulating milk production...
RNAi | milk protein traits | overexpression | Bovine mammary epithelial cell | GPIHBP1
RNAi | milk protein traits | overexpression | Bovine mammary epithelial cell | GPIHBP1
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 01/2010, Volume 30, Issue 1, pp. 5 - 6
Journal Article
Journal of Internal Medicine, ISSN 0954-6820, 09/2011, Volume 270, Issue 3, pp. 224 - 228
. Coca‐Prieto I, Kroupa O, Gonzalez‐Santos P, Magne J, Olivecrona G, Ehrenborg E, Valdivielso P (Hospital Virgen de la Victoria, Malaga University, Malaga,...
chylomicronaemia syndrome | mutations | lipoprotein lipase | GPIHBP1 | Mutations | Lipoprotein lipase | Chylomicronaemia syndrome | MEDICINE, GENERAL & INTERNAL | G56R | BINDING | DEFICIENCY | Exons | Lipoprotein Lipase - genetics | Humans | Male | Mutation, Missense | Syndrome | Hypertriglyceridemia - blood | Carrier Proteins - genetics | Homozygote | Age of Onset | Chylomicrons - blood | Chylomicrons - genetics | Receptors, Lipoprotein | Female | Lipoprotein Lipase - blood | Child | Lipoprotein Lipase - metabolism | Proteins | Analysis | Genetic research | Physiological aspects | Genetic aspects | Blood lipids | Medical and Health Sciences | fysikalisk kemi | Medicin och hälsovetenskap | MEDICIN | Physical Chemistry | chylomicronaemia syndrome;GPIHBP1;lipoprotein lipase;mutations | MEDICINE
chylomicronaemia syndrome | mutations | lipoprotein lipase | GPIHBP1 | Mutations | Lipoprotein lipase | Chylomicronaemia syndrome | MEDICINE, GENERAL & INTERNAL | G56R | BINDING | DEFICIENCY | Exons | Lipoprotein Lipase - genetics | Humans | Male | Mutation, Missense | Syndrome | Hypertriglyceridemia - blood | Carrier Proteins - genetics | Homozygote | Age of Onset | Chylomicrons - blood | Chylomicrons - genetics | Receptors, Lipoprotein | Female | Lipoprotein Lipase - blood | Child | Lipoprotein Lipase - metabolism | Proteins | Analysis | Genetic research | Physiological aspects | Genetic aspects | Blood lipids | Medical and Health Sciences | fysikalisk kemi | Medicin och hälsovetenskap | MEDICIN | Physical Chemistry | chylomicronaemia syndrome;GPIHBP1;lipoprotein lipase;mutations | MEDICINE
Journal Article
Developmental Cell, ISSN 1534-5807, 11/2019, Volume 51, Issue 3, pp. 387 - 398.e4
In the secretory pathway, budding of vesicular transport carriers from the -Golgi network (TGN) must coordinate specification of lipid composition with...
sphingomyelin | Syndecan-1 | secretion | HSPGs | lipoprotein lipase | Golgi apparatus | ORGANIZATION | HEPARIN-BINDING | TRANSPORT | SECRETORY VESICLES | BIOSYNTHESIS | TRANSMEMBRANE DOMAIN | MECHANISMS | DEVELOPMENTAL BIOLOGY | PROTEINS | IDENTIFICATION | GPIHBP1 | CELL BIOLOGY
sphingomyelin | Syndecan-1 | secretion | HSPGs | lipoprotein lipase | Golgi apparatus | ORGANIZATION | HEPARIN-BINDING | TRANSPORT | SECRETORY VESICLES | BIOSYNTHESIS | TRANSMEMBRANE DOMAIN | MECHANISMS | DEVELOPMENTAL BIOLOGY | PROTEINS | IDENTIFICATION | GPIHBP1 | CELL BIOLOGY
Journal Article
Genes and Development, ISSN 0890-9369, 03/2013, Volume 27, Issue 5, pp. 459 - 484
All organisms use fatty acids (FAs) for energy substrates and as precursors for membrane and signaling lipids. The most efficient way to transport and store...
Adipose triglyceride lipase | CGI-58 | Monoglyceride lipase | Hormonesensitive lipase | Lipoprotein lipase | Lipolysis | GPIHBP1 | ENDOTHELIAL-CELL TRANSPORTER | DEVELOPMENTAL BIOLOGY | ANGIOPOIETIN-LIKE PROTEIN-4 | HIGH-DENSITY-LIPOPROTEIN | CELL BIOLOGY | LIPID STORAGE DISEASE | adipose triglyceride lipase | HEPATITIS-C VIRUS | FATTY-ACID OXIDATION | lipoprotein lipase | GENETICS & HEREDITY | hormone-sensitive lipase | monoglyceride lipase | HEPARAN-SULFATE PROTEOGLYCANS | lipolysis | GENOME-WIDE ASSOCIATION | Blood Vessels - metabolism | Communicable Diseases - enzymology | Humans | Neoplasms - enzymology | Lipase - metabolism | Blood Vessels - physiopathology | Intracellular Space - enzymology | Animals | Communicable Diseases - physiopathology | Intracellular Space - metabolism | Protein Binding | Neoplasms - physiopathology | Endothelial Cells - pathology | Endothelial Cells - enzymology | Lipoprotein Lipase - metabolism | Adipose tissues | Physiological aspects | Monoglycerides | Review
Adipose triglyceride lipase | CGI-58 | Monoglyceride lipase | Hormonesensitive lipase | Lipoprotein lipase | Lipolysis | GPIHBP1 | ENDOTHELIAL-CELL TRANSPORTER | DEVELOPMENTAL BIOLOGY | ANGIOPOIETIN-LIKE PROTEIN-4 | HIGH-DENSITY-LIPOPROTEIN | CELL BIOLOGY | LIPID STORAGE DISEASE | adipose triglyceride lipase | HEPATITIS-C VIRUS | FATTY-ACID OXIDATION | lipoprotein lipase | GENETICS & HEREDITY | hormone-sensitive lipase | monoglyceride lipase | HEPARAN-SULFATE PROTEOGLYCANS | lipolysis | GENOME-WIDE ASSOCIATION | Blood Vessels - metabolism | Communicable Diseases - enzymology | Humans | Neoplasms - enzymology | Lipase - metabolism | Blood Vessels - physiopathology | Intracellular Space - enzymology | Animals | Communicable Diseases - physiopathology | Intracellular Space - metabolism | Protein Binding | Neoplasms - physiopathology | Endothelial Cells - pathology | Endothelial Cells - enzymology | Lipoprotein Lipase - metabolism | Adipose tissues | Physiological aspects | Monoglycerides | Review
Journal Article
Yonsei Medical Journal, ISSN 0513-5796, 01/2018, Volume 59, Issue 1, pp. 148 - 153
We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs)....
GPIHBP1 protein, human | LPL protein, human | APOA5 protein, human | High-throughput nucleotide sequencing | LMF1 protein, human | DIAGNOSIS | LIPID-METABOLISM | LPL | SEVERE HYPERTRIGLYCERIDEMIA | CHYLOMICRONEMIA | APOA5 | MEDICINE, GENERAL & INTERNAL | High-Throughput Nucleotide Sequencing | MUTATIONS | SPECTRUM | GPIHBP1 | Brief Communication | 의학일반
GPIHBP1 protein, human | LPL protein, human | APOA5 protein, human | High-throughput nucleotide sequencing | LMF1 protein, human | DIAGNOSIS | LIPID-METABOLISM | LPL | SEVERE HYPERTRIGLYCERIDEMIA | CHYLOMICRONEMIA | APOA5 | MEDICINE, GENERAL & INTERNAL | High-Throughput Nucleotide Sequencing | MUTATIONS | SPECTRUM | GPIHBP1 | Brief Communication | 의학일반
Journal Article
Molecular Metabolism, ISSN 2212-8778, 10/2017, Volume 6, Issue 10, pp. 1137 - 1149
Several members of the angiopoietin-like (ANGPTL) family of proteins, including ANGPTL3 and ANGPTL8, regulate lipoprotein lipase (LPL) activity. Deficiency in...
Lipase inhibition | Lipoprotein metabolism | Lipolysis | Plasma triglycerides | ENDOTHELIAL-CELL TRANSPORTER | LIPID-METABOLISM | PROTEIN | BETATROPHIN | TRIGLYCERIDE-RICH LIPOPROTEINS | IDENTIFICATION | REPORTER | HORMONE | ENDOCRINOLOGY & METABOLISM | MICE | GPIHBP1 | Lipoprotein Lipase - antagonists & inhibitors | Cricetulus | Endothelial Cells - metabolism | Humans | Mice, Inbred C57BL | Rats | Male | Receptors, Lipoprotein - metabolism | Peptide Hormones - metabolism | Angiopoietin-like Proteins - metabolism | Animals | Carrier Proteins - metabolism | Angiopoietins - chemistry | HEK293 Cells | Protein Binding | Mice | Lipoprotein Lipase - metabolism | CHO Cells
Lipase inhibition | Lipoprotein metabolism | Lipolysis | Plasma triglycerides | ENDOTHELIAL-CELL TRANSPORTER | LIPID-METABOLISM | PROTEIN | BETATROPHIN | TRIGLYCERIDE-RICH LIPOPROTEINS | IDENTIFICATION | REPORTER | HORMONE | ENDOCRINOLOGY & METABOLISM | MICE | GPIHBP1 | Lipoprotein Lipase - antagonists & inhibitors | Cricetulus | Endothelial Cells - metabolism | Humans | Mice, Inbred C57BL | Rats | Male | Receptors, Lipoprotein - metabolism | Peptide Hormones - metabolism | Angiopoietin-like Proteins - metabolism | Animals | Carrier Proteins - metabolism | Angiopoietins - chemistry | HEK293 Cells | Protein Binding | Mice | Lipoprotein Lipase - metabolism | CHO Cells
Journal Article
Annals of pediatric endocrinology & metabolism, ISSN 2287-1012, 03/2017, Volume 22, Issue 1, pp. 68 - 71
Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular...
Chylomicronemia | Case Report | GPIHBP1 | Plasmapheresis
Chylomicronemia | Case Report | GPIHBP1 | Plasmapheresis
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2019, Volume 116, Issue 21, pp. 10360 - 10365
Lipoprotein lipase (LPL) plays a central role in triglyceride (TG) metabolism. By catalyzing the hydrolysis of TGs present in TG-rich lipoproteins (TRLs), LPL...
X-ray crystallography | LPL | lipase | GPIHBP1 | INACTIVATION | MULTIDISCIPLINARY SCIENCES | TRIGLYCERIDE-RICH LIPOPROTEINS | BINDING PROTEIN-1 | RISK | ANGPTL4 | DEFICIENCY | Physiological aspects | Lipoprotein lipase | Structure | Binding proteins | Proteins | Lipoproteins | Inhibitors | Homology | Lipids | Glycosylphosphatidylinositol | Lipase | Metabolism | Lipolysis | Crystal structure | Biological Sciences
X-ray crystallography | LPL | lipase | GPIHBP1 | INACTIVATION | MULTIDISCIPLINARY SCIENCES | TRIGLYCERIDE-RICH LIPOPROTEINS | BINDING PROTEIN-1 | RISK | ANGPTL4 | DEFICIENCY | Physiological aspects | Lipoprotein lipase | Structure | Binding proteins | Proteins | Lipoproteins | Inhibitors | Homology | Lipids | Glycosylphosphatidylinositol | Lipase | Metabolism | Lipolysis | Crystal structure | Biological Sciences
Journal Article