A5072195749- Lipid metabolism and biosynthesis
- Adipose Tissue and Metabolism
- Metabolism and Genetic Disorders
- Pancreatic function and diabetes
- Ubiquitin and proteasome pathways
- Cell Adhesion Molecules Research
- Protease and Inhibitor Mechanisms
- Peroxisome Proliferator-Activated Receptors
- Muscle metabolism and nutrition
- Mitochondrial Function and Pathology
- Child and Adolescent Psychosocial and Emotional Development
- Exercise and Physiological Responses
- Biochemical and Molecular Research
- Lymphatic System and Diseases
- Occupational and environmental lung diseases
- Bipolar Disorder and Treatment
- Hepatocellular Carcinoma Treatment and Prognosis
- Endoplasmic Reticulum Stress and Disease
- Liver Disease Diagnosis and Treatment
- Liver physiology and pathology
- Autism Spectrum Disorder Research
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Muscle Physiology and Disorders
- Neuroendocrine regulation and behavior
- Research in Cotton Cultivation
Università Cattolica del Sacro Cuore
2016-2025
Institute of Psychology
2021
Catholic University of America
2015
University of the Sacred Heart
2009-2013
Pontifícia Universidade Católica de São Paulo
2013
Istituto Nazionale Genetica Molecolare
2008-2009
University of Brescia
1994-2003
Obesity is a major public health concern; despite evidence of high heritability, the genetic causes obesity remain unclear.In this study, we assessed presence mutations in three genes involved hypothalamic leptin-melanocortin regulation pathway (leptin, LEP; leptin receptor, LEPR; and melanocortin-4 MC4R), which important for energy homeostasis body, group patients with severe obesity.For selected 77 who had undergone bariatric surgery pre-operative body mass index (BMI) >35 kg/m 2 , early...
A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and I Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression phenotypic variability disease large specific populations. The aim our study was to assess natural history, disability genotype-phenotype correlations Italian NLSDs. Twenty-one who satisfied criteria for NLSDs were enrolled a retrospective cross-sectional...
In the last decades, concept of metabolic rewiring as a cancer hallmark has been expanded beyond "Warburg effect" and importance other routes, including lipid metabolism, emerged. cancer, lipids are not only source energy but also required for formation membranes building blocks, signaling post-translational modification proteins. Since metabolism contributes to malignancy cells, it is an attractive target therapeutic strategies.Over-expression adipose triglyceride lipase (ATGL) was used...
Exposure to alcohol in utero is a well known cause of mental retardation humans. Using experimental models fetal spectrum disorder, it has been demonstrated that cortical pyramidal neurons and their projections are profoundly permanently impaired. Yet, how the functional features these cells modified such modifications impact cognitive processes still unknown. To address this, we studied intrinsic electrophysiological properties young adult rats (P30–P60) exposed ethanol inhalation during...
Hepatocyte growth factor/scatter factor (HGF/SF) is one of the most important humoral mediators liver regeneration. It potentially related to molecular mechanisms hepatocarcinogenesis via a paracrine system involving its cellular receptor, c-met. In this study, expression patterns HGF and c-met were evidenced by multiplex RT-PCR in different specimens human hepatic tissues (n = 71). A significant increase mRNA was detected hepatitis (P 0.001), cirrhosis 0.006), hepatocellular carcinoma (HCC)...
The lack of adipose triglyceride lipase (ATGL), a patatin-like phospholipase domain-containing enzyme that hydrolyzes fatty acids from triacylglycerol (TAG) stored in multiple tissues, causes the autosomal recessive disorder neutral lipid storage disease with myopathy (NLSD-M). In two families Lebanese and Italian origin presenting NLSD-M, we identified new missense mutations highly conserved regions ATGL (p.Arg221Pro p.Asn172Lys) novel nonsense mutation (p.Trp8X). patients harbor homozygous...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs systems, including liver, eyes, ears, skeletal muscle central nervous system (CNS). Mutations ABHD5/CGI58 gene are associated with CDS. Methods Eight CDS patients belonging to six different families...
Background Human early growth response-1 (EGR1) is a member of the zing-finger family transcription factors induced by range molecular and environmental stimuli including epidermal factor (EGF). In recently published paper we demonstrated that integrin/EGFR cross-talk was required for Egr1 expression through activation Erk1/2 PI3K/Akt/Forkhead pathways. EGR1 activity stability can be influenced many different post-translational modifications such as acetylation, phosphorylation,...
Neutral lipid storage disease with myopathy (NLSD-M) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic droplets (LDs). NLSD-M patients are mainly affected progressive myopathy, cardiomyopathy and hepatomegaly. Mutations in the PNPLA2 gene cause variable phenotypes NLSD-M. codes for adipose triglyceride lipase (ATGL), enzyme that hydrolyses fatty acids from triacylglycerol. This report outlines clinical genetic findings...
// Daniela Tavian 1 , Sara Missaglia Paolo E. Maltese 2 Sandro Michelini 3 Alessandro Fiorentino Maurizio Ricci 4 Roberta Serrani Michael A. Walter 5,6 and Matteo Bertelli Laboratory of Cellular Biochemistry Molecular Biology, CRIBENS, Catholic University the Sacred Heart, Milan, Italy MAGI Non-Profit Human Medical Genetics Institute, Rovereto (TN), Department Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Medicina Riabilitativa, Azienda Ospedaliero-Universitaria Ospedali...
Neutral lipid storage disease with myopathy (NLSDM) presents skeletal muscle and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). Here we report clinical genetic findings a patient carrying two novel (c.696+4A>G c.553_565delGTCCCCCTTCTCG). She presented at age 39 right upper limb abduction weakness slowly progressing over years asymmetric involvement proximal lower muscles. Cardiological...
Medium-sized scientific conferences held in hotels large enough to accommodate all participants increase opportunities for constructive discussion during breaks, and evenings that bring together young senior experts of basic sciences clinical specialties. Time group discussions offer new collaborations jobs researchers. Since 1991 the Padova Muscle Days have offered collaborative matured into innovative multidisciplinary results point it came naturally us underline with a neologism now...
BACKGROUND: Morbidity and mortality of heart failure with preserved ejection fraction (HFpEF) is increased in metabolic disorders. However, options for preventing treating these prevalent outcomes are limited. Intramyocardial lipotoxicity contributes to cardiac dysfunction. Here, we investigate the mechanisms underlying endoplasmic reticulum degradation enhancing EDEM2 (endoplasmic degradation–enhancing alpha-mannosidase–like protein 2) regulation lipid homeostasis assess strategies that...
Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA deficiency (MADD). This disorder an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range clinical features, including myopathy, weakness and multisystem dysfunctions. Many patients late onset MADD improve when treated riboflavin are also referred to as RR-MADD (riboflavin-responsive Acyl-CoA disorder). In this study, we report the genetic characterization novel...