A5045031480- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Genetics and Neurodevelopmental Disorders
- Iron Metabolism and Disorders
- Complement system in diseases
- Growth Hormone and Insulin-like Growth Factors
- Parvovirus B19 Infection Studies
- Genetic Syndromes and Imprinting
- Porphyrin Metabolism and Disorders
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Renal Diseases and Glomerulopathies
- Child Nutrition and Feeding Issues
- Cardiovascular Health and Disease Prevention
- Acute Lymphoblastic Leukemia research
- Liver Disease Diagnosis and Treatment
- Diet, Metabolism, and Disease
- Genomic variations and chromosomal abnormalities
- Endoplasmic Reticulum Stress and Disease
- Neurological disorders and treatments
Mario Negri Institute for Pharmacological Research
2021-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2023
Azienda Ospedaliera San Gerardo
2008-2020
University of Milano-Bicocca
2001-2018
Azienda Ospedaliera Sant'Andrea
2017
University of Padua
2007
Azienda Ospedaliero Universitaria Ospedali Riuniti
2005
Hunter disease is an X-linked lysosomal storage disorder characterized by progressive of glycosaminoglycans (GAGs) and multi-organ impairment. The central nervous system (CNS) involved in at least 50% cases. Since 2006, the enzymatic replacement therapy (ERT) available but with no effect on cognitive impairment, as present formulation does not cross blood–brain barrier. Here we report outcome 17 patients treated a single center. Most them (11) started ERT 3 had it earlier 2004, enrolled...
Mutational analysis of the IDUA gene was performed in a cohort 102 European patients with mucopolysaccharidosis type I. A total 54 distinct mutant alleles were identified, 34 which novel including 12 missense mutations, 2 nonsense splicing 5 micro-deletions, 1 micro-duplication translational initiation site mutation, and 'no-stop' change (p.X654RextX62). Evidence for pathological significance all mutations identified sought by means range methodological approaches, assessment evolutionary...
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,...
Abstract Gaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological malignancies, the development of solid tumors in several organs has been described. The liver one major storage sites involved GD pathogenesis, and also affected by liver‐specific complications. In this case series, we describe 16 type 1 (GD1) patients from eight different referral centers around world who developed hepatocellular carcinoma (HCC). Potential factors contributing HCC are...
We analysed the clinical history of 16 hemizygous males affected by Anderson‐Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging 26 61 years age, died, whereas nine (age range 23–55) are alive. Eleven patients have undergone enzyme replacement therapy ( ERT ) for a period 5–10 years. found wide variability in these both terms target‐organs and severity disease. Overall, our findings confirm previous data literature showing...
Chromosome 16 is one of the most gene-rich chromosomes our genome, and 10% its sequence consists segmental duplications, which give instability predisposition to rearrangement by recurrent mechanism non-allelic homologous recombination. Microarray technologies have allowed for analysis copy number variations (CNVs) that can contribute risk developing complex diseases. By array comparative genomic hybridization (CGH) screening 1476 patients, we detected 27 cases with CNVs on chromosome 16. We...
Introduction Atypical hemolytic uremic syndrome (aHUS) is a rare disease that manifests with microangiopathic anemia, thrombocytopenia, and acute renal failure, associated dysregulation of the alternative complement pathway. The chromosomal region including CFH CFHR1-5 rich in repeated sequences, favoring genomic rearrangements have been reported several patients aHUS. However, there are limited data on prevalence uncommon CFH-CFHR aHUS their impact onset outcomes. Methods In this study, we...
To determine the influence of APOE genotype on functional and cognitive outcome incidence prognosis clinical vasospasm (delayed ischemic neurologic deficit [DIND]) in noncomatose patients with aneurysmal subarachnoid hemorrhage (SAH).The authors reviewed data admitted for SAH to Neurosurgical Departments San Gerardo Hospital Monza (January 1996 December 2001) Ospedali Riuniti Bergamo 2002 September 2003). The considered only evaluated by means Rankin Disability Index Mini-Mental State...
X-linked Ornithine Transcarbamylase deficiency (OTCD) is often unrecognized in adults, as clinical manifestations are non-specific, episodic and unmasked by precipitants, laboratory findings can be normal outside the acute phase. It may thus associated with significant mortality if not promptly recognized treated. The aim of this study was to provide clues for recognition OTCD adults analyze environmental factors that, interacting OTC gene mutations, might have triggered manifestations. We...
Mucolipidosis type III (MLIII) is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. In a study of 10 patients from seven families with clinical phenotype and enzymatic diagnosis MLIII, six novel GNPTG gene mutations were identified. These included missense (p.T286M) nonsense (p.W111X) transition in the obligate AG-dinucleotide intron 8 acceptor splice site (c.610-2A>G). Three microdeletions also identified, two which (c.611delG c.640_667del28) located within coding...
Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded GALNS gene. We studied 37 MPS IV patients and defined genotype-phenotype correlations based on clinical data, biochemical assays, molecular analyses, in silico structural analyses associated mutations. found that standard sequencing procedures, albeit identifying 14 novel small genetic lesions, failed to characterize second disease-causing...
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation globotriaosylceramide (Gb3). Although introduction Enzyme Replacement Therapy (ERT) resulted variety clinical benefits, life-long intravenous (IV) treatment with ERT every other week schedule, may interfere daily life activities and impact on QoL. We report here multicentric, observational, longitudinal data...
Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by lysosomal storage of several glycosphingolipids, affecting virtually all organs and systems. Enzyme replacement therapy (ERT) for AFD has been available since 2001. Due to the highly variable nature clinical manifestations in patients with AFD, it very difficult assess progression effects therapy. We used Mainz Severity Score Index (MSSI) as measure severity study ERT population 30 treated agalsidase alfa median 2.9 years...
<b><i>Background:</i></b> Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations either the <i>G6PC</i> gene (GSD1a) or <i>SLC37A4</i> (GSD1b). Osteopenia known complication GSD1. <b><i>Objectives:</i></b> The aim this study was investigate effects poor control and/or use GSD1-specific treatments on bone mineral density (BMD) metabolism in GSD1...
Large GWAS indicated that genetic factors influence the response to SARS-CoV-2. However, sex, age, concomitant diseases, differences in ancestry, and uneven exposure virus impacted interpretation of data. We aimed perform a COVID-19 outcome homogeneous population who experienced high with known infection status. recruited inhabitants Bergamo province-that spring 2020 was epicenter SARS-Cov-2 pandemic Europe-via an online questionnaire followed by personal interviews. Cases controls were...