A5057698631- Pancreatic function and diabetes
- Endoplasmic Reticulum Stress and Disease
- Diabetes Treatment and Management
- Genetics and Neurodevelopmental Disorders
- Phytochemicals and Antioxidant Activities
- Diabetes and associated disorders
- Bioactive Compounds in Plants
- Diabetes Management and Research
- Coffee research and impacts
- RNA Interference and Gene Delivery
- Pluripotent Stem Cells Research
- Antiplatelet Therapy and Cardiovascular Diseases
- Single-cell and spatial transcriptomics
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Cannabis and Cannabinoid Research
- Cellular transport and secretion
- RNA Research and Splicing
- Diet, Metabolism, and Disease
- Cancer-related molecular mechanisms research
- Natural product bioactivities and synthesis
- Obesity, Physical Activity, Diet
- Mitochondrial Function and Pathology
- Evolutionary Algorithms and Applications
- Autophagy in Disease and Therapy
Université Libre de Bruxelles
2019-2024
University of Parma
2016-2024
Erasmus Hospital
2024
German Center for Diabetes Research
2019-2024
Ospedale di Parma
2016
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing function. Understanding the genetic basis of rare subtypes highlights fundamental biological processes in cells. We identified 6 patients from 5 families with homozygous YIPF5 gene, which involved trafficking between endoplasmic reticulum (ER) and Golgi. All had neonatal/early-onset diabetes, severe microcephaly, epilepsy. expressed during human brain development, adult islets. used 3 models...
Friedreich ataxia is an autosomal recessive neurodegenerative disease associated with a high diabetes prevalence. No treatment available to prevent or delay progression. caused by intronic GAA trinucleotide repeat expansions in the frataxin-encoding FXN gene that reduce frataxin expression, impair iron-sulfur cluster biogenesis, cause oxidative stress, and result mitochondrial dysfunction apoptosis. Here we examined metabolic, neuroprotective, frataxin-inducing effects of glucagon-like...
Abstract Background The clear evidence of cardiovascular benefits in outcome trials sodium-glucose cotransporter 2 inhibitors (SGLT2i) type diabetes might suggest an effect on atherosclerotic plaque vulnerability and/or thrombosis, which myeloid angiogenic cells (MAC) and platelets (PLT) are implicated. We tested the effects SGLT2i inflammation oxidant stress a model stearic acid (SA)-induced lipotoxicity MAC PLT activation. possible involvement Na + /H exchanger (NHE) was also explored....
Readily accessible human pancreatic beta cells that are functionally close to primary adult a crucial model better understand cell physiology and develop new treatments for diabetes. We here report the characterization of EndoC-βH5 cells, latest in EndoC-βH family.EndoC-βH5 were generated by integrative gene transfer immortalizing transgenes hTERT SV40 large T along with Herpes Simplex Virus-1 thymidine kinase into fetal pancreas. Immortalizing removed after amplification using CRE...
Increased non high-density lipoprotein (HDL)/low-density (LDL) cholesterol levels are independent risk factors for cardiovascular (CV) mortality with no documented threshold. A new combination of nutraceuticals (berberine 200 mg, monacolin K 3 chitosan 10 mg and coenzyme Q mg) additive lipid-lowering properties has become available. The aim the study is to test efficacy nutraceutical formulation (one daily) in lowering non-HDL vs. placebo at 12 weeks individuals non-HDL-cholesterol ≥160...
During the onset of type 2 diabetes, excessive dietary intake saturated NEFA and fructose lead to impaired insulin production secretion by insulin-producing pancreatic beta cells. The majority data on deleterious effects lipids functional cell mass were obtained either in vivo rodent models or vitro using islets lines. Translating from human cells remains challenging. Here, we used line EndoC-βH1 analysed its sensitivity a lipotoxic glucolipotoxic (high palmitate with without high glucose)...
Objective DNAJC3 , also known as P58 IPK is an Hsp40 family member that interacts with and inhibits PKR-like ER-localized eIF2α kinase (PERK). Dnajc3 deficiency in mice causes pancreatic β-cell loss diabetes. Loss-of-function mutations cause early-onset diabetes multisystemic neurodegeneration. The aim of our study was to investigate the genetic syndromic two unrelated patients, elucidate mechanisms failure this syndrome. Methods Whole exome sequencing performed identified variants were...
In vitro differentiation of human induced pluripotent stem cells (iPSCs) into beta represents an important cell source for diabetes research. Here, we fully characterized iPSC-derived function in and vivo humanized mice. Using a 7-stage protocol, iPSCs were differentiated islet-like aggregates with yield insulin-positive comparable to that islets. The last three stages conducted two different 3D culture systems, rotating suspension or static microwells. the latter, homogeneously small-sized...
Abstract Primary defects in folding of mutant proinsulin can cause dominant‐negative accumulation the endoplasmic reticulum (ER), impaired anterograde trafficking, perturbed ER homeostasis, diminished insulin production, and β‐cell dysfunction. Conversely, if primary impairment ER‐to‐Golgi trafficking (which also perturbs homeostasis) drives misfolding nonmutant proinsulin—this might suggest bi‐directional entry into a common pathological phenotype (proinsulin misfolding, deficient export...
The consumption of foodstuffs yielding circulating compounds able to maintain endothelial function by improving nitric oxide (NO) bioavailability can be considered as an effective strategy for cardiovascular disease prevention. This work assessed the in vitro effects urolithin A, B, and B-glucuronide, ellagitannin-derived metabolites colonic origin, on NO release synthase (eNOS) activation primary human aortic cells (HAECs). Urolithins were tested both individually at 15 μM a mixture 5 each,...
Myeloid angiogenic cells (MACs) play a key role in endothelial repairing processes and functionality but their activity may be impaired by the lipotoxic effects of some molecules like stearic acid (SA). Among dietary components potentially able to modulate function vivo, (poly)phenolic compounds represent serious candidates. Here, we apply comprehensive multidisciplinary approach shed light on prospects Bergamot (Citrus bergamia), citrus fruit rich flavanones other phenolic compounds,...
Introduction Most of the disease-associated single nucleotide polymorphisms (SNPs) lie in non- coding regions human genome. Many these variants have been predicted to impact expression and function long non-coding RNAs (lncRNA), but contribution molecules development complex diseases remains be clarified. Methods Here, we performed a genetic association study between SNP located lncRNA known as LncTGM2 risk developing type 2 diabetes (T2D), analyzed its implication disease pathogenesis at...
Abstract Purpose Coffee is an important source of bioactive compounds, including caffeine, trigonelline, and phenolic compounds. Several studies have highlighted the preventive effects coffee consumption on major cardiometabolic (CM) diseases, but impact different dosages markers CM risk in a real-life setting has not been fully understood. This study aimed to investigate effect cocoa-based confectionery containing several factors healthy subjects. Methods In three-arm, crossover, randomized...
Abstract Cellular identity during development is under the control of transcription factors that form gene regulatory networks. However, and networks underlying cellular in human adult pancreas remain largely unexplored. Here, we integrate multiple single-cell RNA-sequencing datasets pancreas, totaling 7393 cells, comprehensively reconstruct We show a network 142 forms distinct modules characterize pancreatic cell types. present evidence our approach identifies regulators states pancreas....
Abstract Aims To assess the effectiveness of intermittent-scanned continuous glucose monitoring (isCGM) system in preventing severe hypoglycemic episodes and improving parameters quality life. Methods Four hundred T1D individuals were enrolled a prospective real-word study with an intermittently scanned device during 12-months follow-up. The primary endpoint was incidence events. Results 82% subjects naïve to use (group A) 18% already wearing B). cumulative hypoglycemia (SH) at 12 months...
Exposure of human pancreatic beta cells to pro-inflammatory cytokines or metabolic stressors is used model events related type 1 and 2 diabetes, respectively. Quantitative real-time PCR commonly quantify changes in gene expression. The selection the most adequate reference gene(s) for expression normalization an important pre-requisite obtain accurate reliable results. There are no universally applicable genes, cell genes can be altered by different stressors. Here we aimed identify stably...
Abstract Background Empagliflozin can curb inflammation and oxidative stress, through sodium-proton exchanger (NHE) inhibition, in a model of lipotoxicity human myeloid angiogenic cells (MAC), which mediate endothelial repairing processes. Aim this study is to assess MAC whether: (1) Stearic acid (SA) induced increase oxidant stress accompanied by bioenergetic alterations; (2) empagliflozin anti-lipotoxic action concomitant with coherent changes metabolism, possibly via NHE blockade. Methods...
Background: Pure bergamot juice exerts lipid lowering effects in dyslipidemic subjects. It is unknown whether bergamot-based beverages exert similar healthy Aim: To assess the effects, if any, of a beverage (BBB, ≤25%) on lipid, metabolic and inflammatory biomarkers. Methods: Forty-five subjects were randomised 1 : to BBB intake (400 mL day-1) (55.5%) or control (44.5%) for 12 weeks. Anthropometric (waist circumference, body mass index (BMI)) clinical (blood pressure) parameters, blood...
SUMMARY Cellular identity during development is under the control of transcription factors that form gene regulatory networks. However, and networks underlying cellular in human adult pancreas remain largely unexplored. Here, we integrate multiple single-cell RNA-sequencing datasets pancreas, totaling 7393 cells, comprehensively reconstruct We show a network 142 forms distinct modules characterize pancreatic cell types. present evidence our approach identifies regulators pancreas. predict...
Abstract Coffee is an important source of bioactive compounds, including caffeine, trigonelline, and phenolic compounds. Several studies have highlighted the preventive effects coffee consumption on major cardiometabolic diseases, but impact dosage markers risk not well understood. Moreover, pool coffee-derived circulating metabolites in real-life settings unknown. This study evaluated bioavailability recognised bioactives, considering different levels consumption. An innovative experimental...
Abstract Exposure of human pancreatic beta cells to pro-inflammatory cytokines or metabolic stressors is used model events related type 1 and 2 diabetes, respectively. Quantitative real-time PCR commonly quantify changes in gene expression. The selection the most adequate reference gene(s) for expression normalization an important pre-requisite obtain accurate reliable results. There are no universally applicable genes, cell genes can be altered by different stressors. Here we aimed identify...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)