A5064426416- Liver Disease Diagnosis and Treatment
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Pancreatic function and diabetes
- Neonatal Health and Biochemistry
- Diet, Metabolism, and Disease
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Redox biology and oxidative stress
- ATP Synthase and ATPases Research
- Sulfur Compounds in Biology
- Sphingolipid Metabolism and Signaling
- Calcium signaling and nucleotide metabolism
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
- Hereditary Neurological Disorders
- Coenzyme Q10 studies and effects
- Endoplasmic Reticulum Stress and Disease
- Liver Disease and Transplantation
- Pancreatitis Pathology and Treatment
- Amino Acid Enzymes and Metabolism
- Neurogenetic and Muscular Disorders Research
- Biomedical Research and Pathophysiology
- Genomics, phytochemicals, and oxidative stress
- Birth, Development, and Health
Istituti di Ricovero e Cura a Carattere Scientifico
2009-2024
Bambino Gesù Children's Hospital
2014-2024
American College of Gastroenterology
2020
Institute of Neurobiology and Molecular Medicine
2016
Boston Children's Hospital
2001-2011
Inserm
2009
Laboratoire de Biochimie
2004
Institute of Molecular Medicine
2001
In several neurodegenerative diseases, axonal degeneration occurs before neuronal death and contributes significantly to patients’ disability. Hereditary spastic paraplegia (HSP) is a genetically heterogeneous condition characterized by selective of axons the corticospinal tracts fasciculus gracilis. HSP may therefore be considered an exemplary disease study local programs mediating degeneration. We have developed mouse model for autosomal recessive due mutations in SPG7 gene encoding...
In several neurodegenerative diseases, axonal degeneration occurs before neuronal death and contributes significantly to patients’ disability. Hereditary spastic paraplegia (HSP) is a genetically heterogeneous condition characterized by selective of axons the corticospinal tracts fasciculus gracilis. HSP may therefore be considered an exemplary disease study local programs mediating degeneration. We have developed mouse model for autosomal recessive due mutations in SPG7 gene encoding...
Glutathione (l-γ-glutamyl-l-cysteinylglycine), which is present in virtually all mammalian tissues, provides reducing capacity for several reactions and plays an important role detoxification of hydrogen peroxide, other peroxides, free radicals (1). The synthesis degradation glutathione are controlled by the γ-glutamyl cycle; a decrease blood reduced (GSH) has been reported patients affected deficiencies enzymes involved (1). In cells, total can be or bound to proteins; measurement samples...
Oxidative stress and mitochondrial dysfunction have long been considered to play a role in Friedreich's ataxia, neurodegenerative disease due GAA expansion gene coding for protein (frataxin), implicated the regulation of iron metabolism. Since glutathione is an important antioxidant whose has recently proposed pathogenesis some diseases, we investigated metabolism blood 14 patients with ataxia by measuring total, free protein-bound concentrations.Blood samples were obtained from unrelated...
Increasing evidence suggests that iron-mediated oxidative stress might underlie the development of neurodegeneration in Friedreich's ataxia (FRDA), an autosomal recessive caused by decreased expression frataxin, a protein implicated iron metabolism. In this study, we demonstrate that, fibroblasts patients with FRDA, cellular redox equilibrium is shifted toward more protein-bound glutathione. Furthermore, found actin glutathionylated, probably as result accumulation reactive oxygen species,...
Non-alcoholic fatty liver disease (NAFLD) is characterized by intra-hepatic fat accumulation and mechanisms involved in its pathogenesis are not fully explained. Lysosomal Acid Lipase (LAL) a key enzyme lipid metabolism. We investigated activity patients with liver. LAL (nmol/spot/h) was measured 100 adult healthy subjects (HS) 240 NAFLD patients. A sub-analysis on 35 biopsy-proven non-alcoholic steatohepatitis (NASH) performed. Median 1.15 (0.95-1.72) HS. It significantly reduced [0.78...
High-fat and/or high-carbohydrate diets may predispose to several metabolic disturbances including liver fatty infiltration (hepatosteatosis) or be associated with necro-inflammation and fibrosis (steatohepatitis). Several studies have emphasized the hepatoprotective effect of some natural agents. In this study, we investigated potential therapeutic effects treatment emodin, an anthraquinone derivative anti-oxidant anti-cancer abilities, in rats developing diet-induced hepatosteatosis...
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder of inheritance caused by mutation in the ABCD1 gene which determines an accumulation long-chain fatty acids plasma and tissues. Recent evidence shows that oxidative stress may be hallmark pathogenesis X-ALD glutathione plays important role defense against free radicals. In this study we have analyzed homeostasis lymphocytes 14 patients with evaluated balance between oxidized reduced forms glutathione, order to define crucial redox...
A very low carbohydrate ketogenic diet (VLCKD) is an emerging technique to induce a significant, well-tolerated, and rapid loss of body weight in morbidly obese patients. The activity lysosomal acid lipase (LAL) could be involved the pathogenesis non-alcoholic fatty liver disease (NAFLD), which common feature Fifty-two patients suitable for bariatric surgery intervention underwent 25-day-long VLCKD. biochemical markers glucose lipid metabolism, flow-mediated dilation (FMD) brachial artery...
Background and Aims: Increased generation of reactive oxygen species mitochondrial dysfunction may underlie the pathophysiology Friedreich's ataxia, most common inherited due to GAA expansion in a gene coding for protein (frataxin), implicated regulation iron metabolism. Because overload would cause oxidative stress we investigated enzyme antioxidant system blood 14 patients by determining superoxide dismutase, glutathione peroxidase, trasferase catalytic activities. We also studied...
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthetase, have been so far associated with three different phenotypes: the recessive form of Charcot-Mary-Tooth polyneuropathy, autosomal nonsyndromic hearing loss last recently described condition related to congenital visual impairment progressive microcephaly. Here we report case a 14-year-old girl severe cardiomyopathy mild psychomotor delay myopathy; moreover, diffuse reduction cytochrome C oxidase...
Lysosomal acid lipase (LAL) is a key enzyme in lipid metabolism. Initial reports have suggested role for relative acquired LAL deficiency non-alcoholic fatty liver disease (NAFLD)—however, it still unclear whether this mechanism specific NAFLD. We aimed to determine activity cohort of NAFLD subjects and control group hepatitis C virus (HCV)-infected patients, investigating the cirrhosis. A total 81 patients with diagnosis NAFLD, 78 matched controls HCV-related were enrolled. For each...