A5069734352- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Glycogen Storage Diseases and Myoclonus
- Biomedical Research and Pathophysiology
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Extracellular vesicles in disease
- Moyamoya disease diagnosis and treatment
- Nanotechnology research and applications
- Graphene and Nanomaterials Applications
- Virus-based gene therapy research
- Protein Tyrosine Phosphatases
- Ethics in medical practice
- Chromosomal and Genetic Variations
- Gene expression and cancer classification
- Family and Disability Support Research
- Circadian rhythm and melatonin
- Biochemical and Molecular Research
- Parasitic Diseases Research and Treatment
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Phylogenetic Studies
- RNA regulation and disease
- Spinal Dysraphism and Malformations
Città della Speranza Foundation
2017-2024
University of Padua
2013-2024
Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, enzyme catalysing degradation glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatment disease mainly performed by Enzyme Replacement Therapy (ERT) with idursulfase, in use since 2006. Clinical efficacy ERT has been monitored Outcome Survey (HOS) while very few independent studies have so far conducted. The present study a 3.5-years follow-up 27 patients, starting between 1.6 years...
Lysosomal storage disorders (LSDs) are a group of about 50 genetic metabolic disorders, mainly affecting children, sharing the inability to degrade specific endolysosomal substrates. This results in failure cellular functions many organs, including brain that most patients may go through progressive neurodegeneration. In this study, we analyzed mouse model for Hunter syndrome, LSD mostly presenting with neurological involvement. Whole transcriptome analysis cerebral cortex and...
Mucopolysaccharidoses (MPS) are a subgroup of 11 monogenic lysosomal storage disorders due to the deficit activity hydrolases deputed degradation mucopolysaccharides. Although individually rare, all together they account for at least 1:25,000 live births. In this study, we present genetic analysis population 71 MPS patients enrolled in multicenter Italian study. We re-annotated variants, according latest recommendations, and re-classified them as suggested by American College Medical...
Lysosomal storage disorders (LSDs) are monogenic diseases, due to accumulation of specific undegraded substrates into lysosomes. LSD diagnosis could take several years because both poor knowledge these diseases and shared clinical features. The diagnostic approach includes evaluations, biochemical tests, genetic analysis the suspected gene. In this study, we evaluated an targeted sequencing panel as a tool capable potentially reverse classic route. 50 genes 230 intronic sequences conserved...
Whole genome and exome sequencing are contributing to the extraordinary progress in study of human genetic variants. In this fast developing field, appropriate easily accessible tools required facilitate data analysis.Here we describe QueryOR, a web platform suitable for searching among known candidate genes as well finding novel gene-disease associations. QueryOR combines several innovative features that make it comprehensive, flexible easy use. Instead being designed on specific datasets,...
Hunter syndrome (HS) is a lysosomal storage disease caused by iduronate-2-sulfatase (IDS) deficiency and loss of ability to break down recycle the glycosaminoglycans, heparan dermatan sulfate, leading impairment cellular processes cell death. Cell activities functioning intracellular organelles are controlled clock genes (CGs), driving rhythmic expression (CCGs). We aimed evaluate CGs downstream CCGs in HS, before after enzyme replacement treatment with IDS. The levels were evaluated whole...
Maroteaux–Lamy syndrome is an autosomal-recessive disorder due to the deficit of lysosomal enzyme, arylsulfatase B (ARSB). Among numerous genomic lesions reported till now, sequence variant, c.1151G>A (p.S384N), has been associated with a severe phenotype in more than 10% patients. We now report first vivo demonstration polymorphic nature p.S384N, revealed during segregation analysis family at risk for syndrome. The proband, compound heterozygous c.[944G>A]+[245T>G] (p.[R315Q]+[L82R]), did...
Mucopolysaccharidosis type II (Hunter syndrome, MPS II) is an X-linked lysosomal storage disorder caused by the deficit of iduronate 2-sulfatase (IDS), enzyme involved in glycosaminoglycans (GAGs) degradation. We here report case a 9-year-old boy who was diagnosed with extremely severe form at 10 months age. Sequencing IDS gene revealed deletion exons 1–7, extending distally and removing entire pseudogene IDSP1. The difficulty to define boundaries particular severity patient phenotype...
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive disorder caused by the deficit of arylsulfatase B (ARSB) enzyme, which leads to dermatan sulfate pathological storage, resulting in a wide spectrum clinical phenotypes. To date more than 130 different mutations were reported, most them being restricted individual families. We here report first study on ARSB gene MPS patients Turkish ethnogeographic origin. On whole we analyzed 13 unrelated families...
Compressive cervical myelopathy is a well-known life-threatening complication in mucopolysaccharidosis (MPS) patients. Glycosaminoglycan accumulation the growing cartilage results dens dysplasia, atlanto-axial instability, and subsequent periodontoid fibrocartilaginous tissue deposition with upper stenosis.Chiari malformation type 1 (CM1) congenital downward cerebellar tonsil ectopia determined by clivus posterior cranial fossa underdevelopment, possibly leading to progressive spinal cord...
Abstract Mucopolysaccharidosis type II (MPS II) is a neurometabolic disorder, due to the deficit of lysosomal hydrolase iduronate 2-sulfatase (IDS). This leads severe clinical condition caused by multi-organ accumulation glycosaminoglycans (GAGs/GAG) heparan- and dermatan-sulfate, whose elevated levels can be detected in body fluids. Since 2006, enzyme replacement therapy (ERT) has been clinically applied, showing efficacy some peripheral districts. In addition monitoring, GAG dosage...
Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency one lysosomal hydrolases normally degrading GAGs. Affected tissues accumulate undegraded GAGs in cell lysosomes extracellular matrix, thus leading MPS complex clinical phenotype. Although each present with recognizable signs symptoms, these often overlap between subtypes, rendering diagnosis difficult...
Mucopolysaccharidosis type II (Hunter Syndrome) is a rare X-linked inherited lysosomal storage disorder presenting wide genetic heterogeneity. It due to pathogenic variants in the IDS gene, causing deficit of hydrolase iduronate 2-sulfatase, degrading glycosaminoglycans (GAGs) heparan- and dermatan-sulfate. Based on presence/absence neurocognitive signs, commonly two forms are recognized, severe attenuate ones. Here we describe line induced pluripotent stem cells, generated from dermal...