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View article: Lipid deprivation amplifies type I IFN responses in monocytes through prenylation: insights from familial combined hypolipidemia type 2
Lipid deprivation amplifies type I IFN responses in monocytes through prenylation: insights from familial combined hypolipidemia type 2 Open
Familial Combined Hypolipidemia (FHBL2) is a genetic disorder caused by loss-of-function mutations in the Angiopoietin-like 3 ( ANGPTL3 ) gene. FHBL2 subjects exhibit hypolipidemia and protection from atherosclerotic cardiovascular disease…
View article: Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry
Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry Open
BACKGROUND: We aimed to compare the molecular and clinical characteristics of patients identified in Italy as affected by either familial chylomicronemia syndrome (FCS) or multifactorial chylomicronemia syndrome (MCS) and to assess the ove…
View article: Lomitapide-induced fatty liver is a reversible condition: Evidence from a case of familial chylomicronemia syndrome
Lomitapide-induced fatty liver is a reversible condition: Evidence from a case of familial chylomicronemia syndrome Open
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia. It is caused by loss-of-function variants in the genes encoding the lipoprotein lipase (LPL) enzyme and its cofact…
View article: Renal Safety Assessment of Lipid-Lowering Drugs: Between Old Certainties and New Questions
Renal Safety Assessment of Lipid-Lowering Drugs: Between Old Certainties and New Questions Open
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in patients with chronic kidney disease (CKD). Quantitative and qualitative changes in plasma lipoprotein profiles are frequently associated with CKD and represen…
View article: Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group
Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group Open
Background: Awareness, diagnosis, and treatment of familial hypercholesterolemia (FH) starting from childhood are a cornerstone of cardiovascular disease prevention. The LIPIGEN Paediatric Group, a network of specialised centres for the di…
View article: ANGPTL3 binds to PCSK9 to coordinately regulate intracellular lipid homeostasis
ANGPTL3 binds to PCSK9 to coordinately regulate intracellular lipid homeostasis Open
ANGPTL3 and PCSK9 are core proteins involved in lipid metabolism. Literature evidence highlights a potential mutual regulation between them: patients harboring loss-of-function variants in ANGPTL3 show reduced levels of circulating PCSK9. …
View article: Effects of lenvatinib on glucose, cholesterol, triglycerides and estimated cardiovascular risk in patients with advanced thyroid cancer
Effects of lenvatinib on glucose, cholesterol, triglycerides and estimated cardiovascular risk in patients with advanced thyroid cancer Open
Purpose Multitarget kinase inhibitors (MKIs) are effective options in the treatment of cancer, significantly increasing the progression-free survival (PFS) of many tumors. Data about severity and prevalence of metabolic adverse events is s…
View article: ANGPTL3 Deficiency and Risk of Hepatic Steatosis
ANGPTL3 Deficiency and Risk of Hepatic Steatosis Open
BACKGROUND: ANGPTL3 (angiopoietin-like 3) is a therapeutic target for reducing plasma levels of triglycerides and low-density lipoprotein cholesterol. A recent trial with vupanorsen, an antisense oligonucleotide targeting hepatic productio…
View article: Thrombocytopenia and Kidney disease, two possible hallmark of FCS phenotype: preliminary evidence from a cohort study
Thrombocytopenia and Kidney disease, two possible hallmark of FCS phenotype: preliminary evidence from a cohort study Open
Background and Aim: Familial Chylomicronemia Syndrome (FCS) is a rare monogenic autosomal recessive disorder of lipid metabolism determining severe hypertriglyceridemia (HTG). As the use of Volanesorsen, a novel FCS treating drug, has been…
View article: Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study Open
Background and aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholeste…
View article: The Fibrinogen-like Domain of ANGPTL3 Facilitates Lipolysis in 3T3-L1 Cells by Activating the Intracellular Erk Pathway
The Fibrinogen-like Domain of ANGPTL3 Facilitates Lipolysis in 3T3-L1 Cells by Activating the Intracellular Erk Pathway Open
Background: ANGPTL3 stimulates lipolysis in adipocytes, but the underlying molecular mechanism is yet unknown. The C-terminal fibrinogen-like domain of ANGPTL3 (ANGPTL3-Fld) activates the AKT pathway in endothelial cells. Hence, we evaluat…
View article: The role of lipid metabolism in shaping the expansion and the function of regulatory T cells
The role of lipid metabolism in shaping the expansion and the function of regulatory T cells Open
Metabolic inflammation, defined as a chronic low-grade inflammation, is implicated in numerous metabolic diseases. In recent years, the role of regulatory T cells (Tregs) as key controllers of metabolic inflammation has emerged, but our co…
View article: Differential Effects of Bariatric Surgery on Plasma Levels of ANGPTL3 and ANGPTL4.
Differential Effects of Bariatric Surgery on Plasma Levels of ANGPTL3 and ANGPTL4. Open
Introduction : Angiopoietin-like protein 3 (ANGPTL3) and 4 (ANGPTL4) are regulators of triglycerides storage and utilization. Bariatric surgery (BS) determines profound changes in adipose tissue composition and energy metabolism. We evalua…
View article: Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long‐Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events
Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long‐Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events Open
Background Familial hypercholesterolemia (FH) may arise from deleterious monogenic variants in FH‐causing genes as well as from a polygenic cause. We evaluated the relationships between monogenic FH and polygenic hypercholesterolemia in in…
View article: The Interplay between Angiopoietin-Like Proteins and Adipose Tissue: Another Piece of the Relationship between Adiposopathy and Cardiometabolic Diseases?
The Interplay between Angiopoietin-Like Proteins and Adipose Tissue: Another Piece of the Relationship between Adiposopathy and Cardiometabolic Diseases? Open
Angiopoietin-like proteins, namely ANGPTL3-4-8, are known as regulators of lipid metabolism. However, recent evidence points towards their involvement in the regulation of adipose tissue function. Alteration of adipose tissue functions (al…
View article: Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes Open
Objective: Familial chylomicronemia syndrome (FCS) and multifactorial chylomicronemia syndrome (MCS) are the prototypes of monogenic and polygenic conditions underlying genetically based severe hypertriglyceridemia. These conditions have b…
View article: Metabolomic Signature of Angiopoietin-Like Protein 3 Deficiency in Fasting and Postprandial State
Metabolomic Signature of Angiopoietin-Like Protein 3 Deficiency in Fasting and Postprandial State Open
Objective— Loss-of-function (LOF) variants in the ANGPTL3 (angiopoietin-like protein 3) have been associated with low levels of plasma lipoproteins and decreased coronary artery disease risk. We aimed to determine detailed metabolic effect…
View article: Metabolomic signature of angiopoietin-like protein 3 deficiency in fasting and postprandial state
Metabolomic signature of angiopoietin-like protein 3 deficiency in fasting and postprandial state Open
Objective Loss-of-function variants in the angiopoietin-like 3 gene ( ANGPTL3 ) have been associated with low levels of plasma lipoproteins and decreased coronary artery disease risk. We aimed to determine detailed metabolic effects of gen…