A5046797426- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Biomedical Research and Pathophysiology
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Glycosylation and Glycoproteins Research
- Metabolism and Genetic Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- MicroRNA in disease regulation
- RNA regulation and disease
- Cytomegalovirus and herpesvirus research
- PI3K/AKT/mTOR signaling in cancer
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
- Biochemical and Molecular Research
- Studies on Chitinases and Chitosanases
- Vitamin K Research Studies
- Ultrasound Imaging and Elastography
- Management, Economics, and Public Policy
- Circular RNAs in diseases
- Phytoplasmas and Hemiptera pathogens
- Immunodeficiency and Autoimmune Disorders
- Autoimmune and Inflammatory Disorders Research
- Chromosomal and Genetic Variations
Institute for Biomedical Research and Innovation
2020-2025
National Research Council
2015-2025
Istituto di Biomedicina e di Immunologia Molecolare Alberto Monroy
2011-2018
National Academies of Sciences, Engineering, and Medicine
2012-2015
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of lysosomal enzyme α-galactosidase A (α-Gal A). It an X-linked, enzymopathy due to mutations in galactosidase alpha gene (GLA), encoding α-Gal A. To date, more than 900 this have been described. In our laboratories, study genetic and enzymatic alterations related FD was performed about 17,000 subjects with symptomatology referable disorder. The accumulation...
Anderson-Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene, which encodes enzyme α-galactosidase A. The gene located on X-chromosome, causing an X-linked pathology: due to lyonization, female patients usually manifest variable symptomatology, ranging from asymptomatic severe phenotypes. confirmation of clinical diagnosis Fabry disease, achieved measuring A activity, first test used, shows differences between male and patients. This assay reliable with...
Human ageing can be characterized by a profile of circulating microRNAs (miRNAs), which are potentially predictors biological age. They used as biomarker risk for age-related inflammatory outcomes, and senescent endothelial cells (ECs) have emerged possible source miRNAs. In this paper, panel four miRNAs including miR-146a-5p, miR-126-3p, miR-21-5p, miR-181a-5p, involved in several pathways related to inflammation, ECs senescence that seem characteristic the healthy phenotype. The levels...
Background: Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Acid Sphingomyelinase Deficiency, which acid sphingomyelinase dysfunction. The possible overlap clinical presentation can cause diagnostic errors differential diagnosis. For this reason, patients with an initial suspicion of disease, we aimed to carry out parallel screening glucocerebrosidase. Methods:...
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect due to mutations in GLA gene, located long arm X chromosome (Xq21-22). Functional α-GalA leads reduced degradation and accumulation its substrates, predominantly globotriaosylceramide (Gb3), which accumulate lysosomes numerous cell types, giving rise symptomatology. Clinical diagnosis can still be difficult today...
Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect this enzyme, which variants in GLA gene, leads to accumulation glycosphingolipids, mainly globotriaosylceramide lysosomes different cell types. clinical presentation Fabry multisystemic and can vary depending on specific genetic associated with disease. To date, more than 1000 have been identified human including missense...
Background: Multiplex Ligation Probe Amplification (MLPA) is a widely used technique for the diagnosis of lysosomal storage diseases (LSDs). It analyses over 40 DNA sequences in single reaction, identifying copy number variations and large deletions/insertions genes. The diagnostic process LSDs starts with analysis missing or reduced enzyme, followed by genetic investigation and, if possible, search accumulated substrates. However, while using Sanger sequencing excellent at detecting small...
Gaucher disease is an autosomal recessive disorder caused by dysfunction of the enzyme glucocerebrosidase. The deficiency mainly due to mutations in GBA1 gene, and it responsible for accumulation glucosylceramide within lysosomes monocyte macrophage-derived cells; causing associated symptomatology. In this paper, we describe six new identified which, combination with other already documented, lead absent or reduced glucocerebrosidase activity, resulting pathological specific substrate...
Fabry disease (FD) is an X-linked progressive multisystem due to mutations in the gene encoding lysosomal enzyme α-galactosidase A (α-GalA). The deficiency α-GalA activity leads intra-lysosomal accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3), various organs and systems. Enzyme replacement therapy available alternative therapeutic approaches are being explored. No diagnostic test, other than sequencing gene, available, no biomarker has been proven useful screen...
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α -galactosidase A ( -GAL). The impairment -GAL results in accumulation undegraded glycosphingolipids lysosomes and subsequent cell microvascular dysfunctions. This study reports clinical, biochemical, molecular characterization 15 members same family. Eight showed exonic mutation M51I GLA gene, a disease-causing associated with atypical phenotype. clinical history this...
Fabry's disease (FD) is a rare, multi-organ lysosomal disease, caused by the deficiency of enzyme α-galactosidase A, and difficult to diagnose. Although parapelvic cysts (PC) were previously associated with FD, their prevalence significance are unclear. The present study aimed to: (i) evaluate, renal ultrasound, real PC determinants in multicentre, nationwide cohort FD patients (n = 173, Study 1) (ii) ascertain whether greater accuracy detection improved identification, from single centre...
// Giuseppe Cammarata 1 , Simone Scalia Paolo Colomba Carmela Zizzo Antonio Pisani 2 Eleonora Riccio Michaela Montalbano Riccardo Alessandro 1, 3 Antonello Giordano 4 and Giovanni Duro Institute of Biomedicine Molecular Immunology, National Research Council, Palermo, Italy Department Public Health, Section Nephrology, Federico II University Naples, Biopathology Medical Biotechnology, Neurology, Guzzardi Hospital, Vittoria, Correspondence to: Cammarata, email: cammarata@ibim.cnr.it Keywords:...
Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of exogalactohydrolase, α-galactosidase A. This deficiency, results in altered metabolism glycosphingolipids which leads to their accumulation lysosomes, thus cellular and vascular dysfunction. To date, numerous mutations (according recent data more than 1000 mutations) have been reported GLA intronic exonic mutations. Traditionally, clinical manifestations are severe affected...
Anderson-Fabry disease (FD) is caused by a deficit of the α-galactosidase A enzyme which leads to accumulation complex sphingolipids, especially globotriaosylceramide (Gb3), in all cells body, causing onset multi-systemic with poor prognosis adulthood. In this article, we describe two alternative methods for screening GLA gene codes subjects probable FD order test analysis strategies include or rely on initial pre-screening. We analyzed 740 samples using EcoTILLING, comparing...
Fabry disease ( FD ) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever FMF ). We examined the MEFV α‐galactosidase A GLA genes, whose mutations are responsible for , respectively, in 42 unrelated patients diagnosed which revealed significant ambiguity regarding some of symptoms also present . The objective this study was determine spectrum these order identify cases mistaken diagnosis...
Olipudase alfa is indicated for the non-central nervous system manifestations of Acid sphingomyelinase deficiency (ASMD). Anaphylaxis a very rare and life-threatening adverse reaction described this drug. Here, we report case 2-year-old boy affected by chronic neurovisceral ASMD who experienced signs hypersensitivity reactions to olipudase since administered dose 1 mg/kg during escalation proper anaphylactic second administration target therapeutic 3 mg/kg. The treatment was stopped 15 weeks...
Studying a patient with Pompe disease (PD) is like opening Pandora’s box. The specialist faced numerous clinical features similar to those of several diseases, and very often the symptoms are well hidden none associated this rare disease. In recent years, scientific interest in has been growing more more, but still no symptom recognized as key correct diagnosis it, nor there any specific marker date. New diagnostic/therapeutic proposals on allow for diffusion knowledge pathology timely...
Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of lysosomal hydrolase, enzyme α-galactosidase A (GLA). This responsible for storage undegraded glycosphingolipids in lysosomes with subsequent cellular and microvascular dysfunction. The incidence estimated at 1:40,000 general population, although neonatal screening initiatives have found an unexpectedly high prevalence genetic alterations, up to 1:3,100, newborns Italy,...