A5068476070- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Genomics, phytochemicals, and oxidative stress
- Liver Disease Diagnosis and Treatment
- Neonatal Health and Biochemistry
- Parkinson's Disease Mechanisms and Treatments
- Endoplasmic Reticulum Stress and Disease
- Pancreatitis Pathology and Treatment
- Calcium signaling and nucleotide metabolism
- Cystic Fibrosis Research Advances
- Autism Spectrum Disorder Research
- Dysphagia Assessment and Management
- Lipid metabolism and biosynthesis
- Neurogenesis and neuroplasticity mechanisms
- Microtubule and mitosis dynamics
- Tryptophan and brain disorders
- Peroxisome Proliferator-Activated Receptors
- Carbohydrate Chemistry and Synthesis
- Ferroptosis and cancer prognosis
- Cholesterol and Lipid Metabolism
- Drug Transport and Resistance Mechanisms
- Food Security and Health in Diverse Populations
- Nuclear Receptors and Signaling
- Sphingolipid Metabolism and Signaling
- Mitochondrial Function and Pathology
Bambino Gesù Children's Hospital
2016-2024
MaineHealth
2023
Maine Medical Center
2021
Istituti di Ricovero e Cura a Carattere Scientifico
2019
NRF2 (Nuclear factor Erythroid 2-related Factor 2) signaling is impaired in Friedreich's Ataxia (FRDA), an autosomal recessive disease characterized by progressive nervous system damage and degeneration of nerve fibers the spinal cord peripheral nerves. The loss frataxin patients results iron sulfur cluster deficiency accumulation mitochondria, making FRDA a fatal debilitating condition. There are no currently approved therapies for treatment molecules able to activate have potential induce...
Frataxin deficiency is the pathogenic cause of Friedreich's Ataxia, an autosomal recessive disease characterized by increase oxidative stress and production free radicals in cell. Although onset pathology occurs second decade life, cognitive differences defects brain structure functional activation are observed patients, suggesting developmental to take place during fetal neurogenesis. Here we describe impairments proliferation, stemness potential differentiation neural stem cells isolated...
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...
To elucidate the pathogenesis of axonopathy in Friedreich's Ataxia (FRDA), a neurodegenerative disease characterized by axonal retraction, we analyzed microtubule (MT) dynamics an vitro frataxin-silenced neuronal model (shFxn). A typical feature MTs is their "dynamic instability", which they undergo phases growth (polymerization) and shrinkage (depolymerization). play fundamental role physiology neurons every perturbation dynamicity highly detrimental for functions. The aim this study to...
Liver cirrhosis is characterized by a severe acquired reduction of LAL-activity, the precise causes and consequences which need to be further addressed. DBS-determined lysosomal enzyme activities seem affected white blood cell platelet counts, specificity these tests can reduced when applied determined populations, such as cirrhotics.
Prenatal exposure to valproic acid (VPA) is a risk factor for autism spectrum disorder (ASD) in humans and it induces autistic-like behaviors rodents. Imbalances between GABAergic glutamatergic neurotransmission increased oxidative stress together with altered glutathione (GSH) metabolism have been hypothesized play role both VPA-induced embriotoxicity human ASD. N-acetylcysteine (NAC) an antioxidant precursor of modulator that has tested ASD, although the clinical studies currently...
Redox imbalance, mitochondrial dysfunction, and inflammation play a major role in the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), an inherited neurodegenerative disease caused by mutations ABCD1 gene, encoding protein responsible for peroxisomal import degradation very long chain fatty acids (VLCFAs). Therefore, VLCFAs accumulate tissues plasma, constituting pathognomonic biomarker diagnosis. However, precise VLCFA accumulation on diverse clinical phenotypes X-ALD pathogenic...
Epilepsy is a neurological disorder characterized by recurrent seizures, which result from excessive, synchronous discharges of neurons in different brain areas. In about 30% cases, epileptic discharges, vary their etiology and symptomatology, are difficult to treat with conventional drugs. Ferroptosis newly defined iron-dependent programmed cell death, excessive accumulation lipid peroxides reactive oxygen species. Evidence has been provided that ferroptosis involved epilepsy, particular...
Abstract Recent studies demonstrated reduced blood lysosomal acid lipase (LAL) activity in patients with nonalcoholic fatty liver disease (NAFLD). We aimed to verify hepatic LAL protein content and vitro vivo models of fat overload NAFLD patients. were firstly evaluated Huh7 cells exposed high-glucose/high-lipid (HGHL) medium the C57BL/6 mice fed high-fat diet (HFD) for 4 8 months. was also by immunohistochemistry biopsies from 87 10 controls, correlated histology. treated HGHL showed a...
Abstract Background Preclinical studies underlined the relevance of Nuclear factor erythroid 2‐related 2 (Nrf2) transcription pathway in pathogenesis Parkinson's disease (PD). Objective The objective this study was to explore Nrf2 vivo PD, looking for novel biomarkers and therapeutic targets. Methods levels Nrf2, downstream effectors (NAD(P)H dehydrogenase [quinone] 1 (Nqo1) enzyme, glutathione metabolism enzymes Glutamate–cysteine ligase (GCL) Glutathione Reductase (GR)), upstream...
Abstract The cystic fibrosis (CF) community seeks to explain heterogeneous outcomes of pulmonary exacerbation (PEX) treatment. Serum and sputum inflammatory mediators may identify people with CF (PwCF) at risk for suboptimal responses. However, lack an established association between response phenotypes these limits clinical application. In this pilot study, we prospectively characterized treatment by assessing health-related quality-of-life (HRQoL) during PEX. We also measured lung function...
Abstract Background: The cystic fibrosis (CF) community seeks to explain the heterogeneity of pulmonary exacerbation (PEX) treatment outcomes. Studies suggest that certain substances in serum and sputum offer objective evidence PEX onset people with CF (PwCF) identify those at risk for inadequate responses. However, it is clinically impractical measure most these substances, a lack correlative clinical information limits their utility as drivers medical decision-making. Here, we questioned...