A5048054475- Liver Disease Diagnosis and Treatment
- Diet, Metabolism, and Disease
- Iron Metabolism and Disorders
- Endoplasmic Reticulum Stress and Disease
- Hepatitis C virus research
- Hemoglobinopathies and Related Disorders
- Folate and B Vitamins Research
- Lipid metabolism and disorders
- Lipid metabolism and biosynthesis
- Liver Disease and Transplantation
- Adipose Tissue and Metabolism
- Liver Diseases and Immunity
- Cancer, Lipids, and Metabolism
- RNA modifications and cancer
- Alcohol Consumption and Health Effects
- Hepatocellular Carcinoma Treatment and Prognosis
- Diabetes and associated disorders
- Diet and metabolism studies
- Pancreatitis Pathology and Treatment
- Hepatitis B Virus Studies
- Mitochondrial Function and Pathology
- Pancreatic function and diabetes
- Metabolism and Genetic Disorders
- Lipoproteins and Cardiovascular Health
- Trace Elements in Health
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2016-2025
University of Milan
2012-2022
Universitätsklinikum Knappschaftskrankenhaus Bochum
2022
Madrigal Pharmaceuticals (United States)
2022
Ospedale Maggiore
2001-2021
Istituti di Ricovero e Cura a Carattere Scientifico
2000-2021
Merck & Co., Inc., Rahway, NJ, USA (United States)
2013
George Mason University
2013
Antwerp University Hospital
2013
Istanbul Medeniyet University
2013
Inherited factors play a major role in the predisposition to nonalcoholic fatty liver disease (NAFLD), and rs738409 C→G polymorphism of PNPLA3/adiponutrin, encoding for isoleucine-to-methionine substitution at residue 148 (I148M) protein variant, has recently been recognized as determinant fat content. However, effect on severity fibrosis patients with NAFLD is still unknown. In this study, we considered 253 Italian patients, 179 healthy controls, 71 family trios an affected child NAFLD....
Excess hepatic storage of triglycerides is considered a benign condition, but nonalcoholic steatohepatitis (NASH) may progress to fibrosis and promote atherosclerosis. Carriers the TM6SF2 E167K variant have fatty liver as result reduced secretion very-low-density lipoproteins (VLDLs). As result, they lower circulating lipids risk myocardial infarction. In this study, we aimed assess whether affects damage cardiovascular outcomes in subjects at NASH. Liver was evaluated 1,201 patients who...
Retinoids are micronutrients that stored as retinyl esters in the retina and hepatic stellate cells (HSCs). HSCs key players fibrogenesis chronic liver diseases. The enzyme responsible for hydrolysis release of from is unknown relationship between retinoid metabolism disease remains unclear. We hypothesize patatin-like phospholipase domain-containing 3 (PNPLA3) protein involved retinol HSCs. tested our hypothesis both primary human a cohort subjects with non-alcoholic fatty (N = 146). Here...
Nonalcoholic fatty liver disease is epidemiologically associated with hepatic and metabolic disorders. The aim of this study was to examine whether fat accumulation has a causal role in determining damage insulin resistance.We performed Mendelian randomization analysis using risk alleles PNPLA3, TM6SF2, GCKR MBOAT7, polygenic score for fat, as instruments. We evaluated complementary cohorts at-risk individuals from the general population: 1515 biopsy cohort (LBC), 3329 Swedish Obese Subjects...
Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes chronic in children. Genetic variability, which a main player NAFLD, especially characterized by polymorphisms genes involved development and progression to nonalcoholic steatohepatitis (NASH). Recently, rs738409 C>G adiponutrin/patatin-like phospholipase domain-containing 3 ( PNPLA3 ) polymorphism, encodes I148M protein variant catalytic domain, has been associated with severe steatosis, NASH, fibrosis adults. In...
•Genetic predisposition to liver fat accumulation predisposes cirrhosis and HCC.•Hepatic promotes carcinogenesis, partly via fibrosis.•Polygenic risk scores may improve HCC stratification during dysmetabolism. Background & AimsHepatocellular carcinoma (HCC) in individuals with dysmetabolism is a major unmet need. Genetic contributes non-alcoholic fatty disease (NAFLD). We aimed exploit robust polygenic (PRS) that can be evaluated the clinic gain insight into causal relationship between NAFLD...
Abstract Steatosis has been reported to negatively influence the natural history of chronic hepatitis C (CHC), but controversy remains over its causal role due confounding effect adiposity, insulin resistance, and diabetes. The rs738409 C>G patatin-like phospholipase domain-containing 3 ( PNPLA3 ) single nucleotide polymorphism (SNP), encoding for I148M protein variant, influences liver fat without affecting resistance body composition. aim this study was evaluate CG genotype on fibrosis...
Nonalcoholic fatty liver disease (NAFLD) represents an emerging cause of hepatocellular carcinoma (HCC), especially in non-cirrhotic individuals. The rs641738 C > T MBOAT7/TMC4 variant predisposes to progressive NAFLD, but the impact on hepatic carcinogenesis is unknown. In Italian NAFLD patients, allele was associated with NAFLD-HCC (OR 1.65, 1.08-2.55; n = 765), particularly those without advanced fibrosis (p < 0.001). risk linked 3'-UTR variation MBOAT7 and reduced expression patients...
Liver fat deposition related to systemic insulin resistance defines non-alcoholic fatty liver disease (NAFLD) which, when associated with oxidative hepatocellular damage, inflammation, and activation of fibrogenesis, i.e. steatohepatitis (NASH), can progress towards cirrhosis carcinoma. Due the epidemic obesity, NAFLD is now most frequent leading cause altered enzymes in Western countries. Epidemiological, familial, twin studies provide evidence for an element heritability NAFLD. Genetic...
Aberrant hepatocyte Notch activation is required for development of NASH-associated fibrosis, and inhibition ameliorates obesity-induced liver disease.
Abstract Fatty liver disease (FLD) caused by metabolic dysfunction is the leading cause of and prevalence rising, especially in women. Although during reproductive age women are protected against FLD, for still unknown understudied reasons some develop rapidly progressive at menopause. The patatin-like phospholipase domain-containing 3 ( PNPLA3 ) p.I148M variant accounts largest fraction inherited FLD variability. In present study, we show that there a specific multiplicative interaction...
OBJECTIVES Hyperferritinemia is frequently observed in nonalcoholic fatty liver disease (NAFLD), the hepatic manifestation of metabolic syndrome characterized by insulin resistance and considered high cardiovascular risk. Iron depletion phlebotomy has been reported to decrease NAFLD small, uncontrolled studies. Aims this study were define relationship between ferritin iron stores patients with NAFLD, effect on resistance, whether basal levels influence treatment outcome. METHODS Subjects...
OBJECTIVE—Nonalcoholic fatty liver, affecting 34% of the U.S. population, is characterized by hepatic insulin resistance, which more marked in presence steatohepatitis, and frequently precedes hyperglycemia. The molecular mechanisms underlying relationship between liver resistance are still undergoing definition have not been evaluated humans. Our aim was to evaluate expression regulation forkhead box–containing protein O subfamily-1 (FOXO1), a transcription factor that mediates effect on...
Background/aims The aim of this study was to assess the effect functional ENPP1(ectoenzyme nucleotide pyrophosphate phosphodiesterase 1)/PC-1 (plasma cell antigen-1) and IRS-1 (insulin receptor substrate-1) polymorphisms influencing insulin activity on liver damage in non-alcoholic fatty disease (NAFLD), hepatic manifestation metabolic syndrome, whose progression is associated with severity resistance. Patients methods 702 patients biopsy-proven NAFLD from Italy UK, 310 healthy controls....