A5052930244- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Trypanosoma species research and implications
- Child Nutrition and Feeding Issues
- Autoimmune and Inflammatory Disorders Research
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neurogenetic and Muscular Disorders Research
- Glycosylation and Glycoproteins Research
- Family and Disability Support Research
- Cytomegalovirus and herpesvirus research
- Hormonal Regulation and Hypertension
- Parkinson's Disease Mechanisms and Treatments
- Sphingolipid Metabolism and Signaling
- Neonatal Health and Biochemistry
- Genetics and Neurodevelopmental Disorders
- Thyroid Cancer Diagnosis and Treatment
- Protein Tyrosine Phosphatases
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Cholesterol and Lipid Metabolism
- CRISPR and Genetic Engineering
- Biomedical Research and Pathophysiology
Ospedale Santa Maria della Misericordia di Udine
2015-2025
University of Udine
2012-2024
University of Glasgow
2021
Centre National de la Recherche Scientifique
2017
Great Ormond Street Hospital
2017
Inserm
2017
Institut de génétique et de biologie moléculaire et cellulaire
2017
Université de Strasbourg
2017
Centre Hospitalier Universitaire de Nantes
2017
University College London
2017
ABSTRACT To assess the discriminating power of multiple cerebrospinal fluid (CSF) biomarkers for Parkinson's disease (PD), we measured several proteins playing an important role in pathogenesis. The activities β‐glucocerebrosidase and other lysosomal enzymes, together with total oligomeric α‐synuclein, phosphorylated tau, were thus assessed CSF 71 PD patients compared to 45 neurological controls. Activities β‐glucocerebrosidase, β‐mannosidase, β‐hexosaminidase, β‐galactosidase established...
Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers good care. There are no published national or international consensus guidelines for management of patients with ASMD. For these reasons, we have developed clinical that defines standard care ASMD patients.The information contained was obtained through systematic literature review experiences authors...
Reduced β-glucocerebrosidase activity was observed in postmortem brains of both GBA1 mutation carrier and noncarrier Parkinson's disease patients, suggesting that lower is a key feature the pathogenesis PD. The objectives this study were to confirm whether there reduced CSF PD patients verify if other lysosomal enzymes show altered CSF.CSF β-glucocerebrosidase, cathepsin D, β-hexosaminidase activities measured 79 61 healthy controls from BioFIND cohort. whole gene sequenced.Enzyme normalized...
Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid α-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation lysosomes. We report here complete molecular analysis GAA gene performed on 40 Italian patients with late onset GSDII. Twelve novel alleles have been identified: missense mutations were functionally characterized by enzyme activity protein processing human GAA-deficient cell line while splicing...
Niemann-Pick C disease (NPC) is an autosomal recessive neurodegenerative disorder caused by the abnormal function of NPC1 or NPC2 proteins, leading to accumulation unesterified cholesterol and glycosphingolipids (GSLs) in lysosomes. The mechanisms underlying pathophysiology NPC are not clear. Oxidative damage implicated different neurological disorders effect GSL on intracellular redox state has been documented. Therefore, we determined whether might contribute pathophysiology. Because...
Cholesterol plays a key role in many cellular processes, and is generated by cells through de novo biosynthesis or acquired from exogenous sources the uptake of low-density lipoproteins. complex, multienzyme-catalyzed pathway involving series sequentially acting enzymes. Inherited defects genes encoding cholesterol biosynthetic enzymes other regulators homeostasis result severe metabolic diseases, which are rare general population currently without effective therapy. Historically, these...
Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative negative prognostic factor. At same time limited are available on treatment in CRIM-positive infants. A retrospective multicentre observational study was designed to analyse...
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of acid beta-glucosidase (GCase) enzyme, resulting in progressive accumulation glucosylceramide (GlcCer) and its deacylated derivate, glucosylsphingosine (GlcSph). GCase encoded by GBA1 gene, located on chromosome 1q21 16 kb upstream from a highly homologous pseudogene. To date, more than 400 pathogenic variants have been reported, many them derived recombination events between gene In...
Abstract Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings the natural history disease. Here we report patient from International Registry (INPDR). Method INPDR a web-based, patient-led independent registry for prospective and retrospective patients. Baseline patients enrolled into September 2014 to December...
Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated miglustat for periods from 48 96 months. Based on the age at onset of neurological manifestations patients' phenotypes classified as: adult (n = 6), juvenile 9), late infantile early 2). Two had exclusively visceral phenotype. We clinically evaluated involvement, giving a score severity ranging 0 (best) 3 (worst) gait abnormalities,...
Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also patients sharing same GAA mutations, even within family.For large series of GSDII we collected some data as age onset disease, presence or absence muscular pain, Walton score, 6-Minute Walking Test, Vital Capacity, and Creatine Kinase. DNA was extracted tested for genetic polymorphisms able to influence muscle properties (ACE, ACTN3,...
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding transmembrane protein related Sonic hedgehog (Shh) receptor, Patched, and involved intracellular trafficking of cholesterol. We have recently found that proliferation cerebellar granule neuron precursors significantly reduced Npc1−/− mice downregulation Shh expression. This finding prompted us analyze formation primary cilium, non-motile organelle specialized...
Glycogen storage disease type II is a lysosomal disorder due to mutations of the GAA gene, which causes alpha-glucosidase deficiency. Clinically, glycogen has been classified in infantile and late-onset forms. Most patients share leaky splicing mutation c.-32-13T>G. To date, mechanism by c.-32-13T>G affects mRNA not fully known. In this study, we demonstrate that abrogates binding factor U2AF65 polypyrimidine tract exon 2 several factors affect inclusion, although only capable acting...
BackgroundGaucher Disease is caused by mutations of the GBA gene which encodes lysosomal enzyme acid beta-glucosidase (GCase). commonly affect GCase function perturbing its protein homeostasis rather than catalytic activity. Heat shock proteins are well known cytoprotective molecules with functions in and their manipulation has been suggested as a potential therapeutic strategy for GD. The investigational drug arimoclomol, phase II/III clinical trials, well-characterized HSP amplifier...