A5032308092- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Inflammatory Myopathies and Dermatomyositis
- Cardiomyopathy and Myosin Studies
- Ion channel regulation and function
- RNA regulation and disease
- Nitric Oxide and Endothelin Effects
- Nuclear Structure and Function
- Autophagy in Disease and Therapy
- RNA Research and Splicing
- Soft tissue tumor case studies
- Calpain Protease Function and Regulation
- Peptidase Inhibition and Analysis
- Parkinson's Disease Mechanisms and Treatments
- Viral Infections and Immunology Research
- Protein Degradation and Inhibitors
- Skin and Cellular Biology Research
- RNA modifications and cancer
- Eosinophilic Disorders and Syndromes
- Graphene and Nanomaterials Applications
- Hematopoietic Stem Cell Transplantation
- Cellular transport and secretion
- Neurogenetic and Muscular Disorders Research
- Multiple Myeloma Research and Treatments
Sanford Burnham Prebys Medical Discovery Institute
2020-2024
Discovery Institute
2020-2024
University of Verona
2013-2023
University of the Sacred Heart
2020
Università Cattolica del Sacro Cuore
2010-2020
Medical University of Warsaw
2017
Instytut Biologii Doświadczalnej im. Marcelego Nenckiego
2017
Agostino Gemelli University Polyclinic
2010
University of Ferrara
2010
Radboud University Nijmegen
2010
Autophagy has a large range of physiological functions and its dysregulation contributes to several human disorders, including autoinflammatory/autoimmune diseases such as inflammatory myopathies (IIMs). In order better understand the pathogenetic mechanisms these muscular we sought define role autophagic processes their relation with innate immune system in three main subtypes IIM, specifically sporadic inclusion body myositis (sIBM), polymyositis (PM), dermatomyositis (DM) juvenile (JDM)....
Mitochondrial diseases (MD) are heterogeneous disorders because of impairment respiratory chain function leading to oxidative stress. We hypothesized that in MD the vascular endothelium may be affected by increased oxidative/nitrative stress causing a reduction nitric oxide availability. therefore, investigated pathobiology vasculature patients assaying presence 3-nitrotyrosine muscle biopsies followed proteomic identification proteins which undergo tyrosine nitration. then measured...
Abstract Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. Almost 50 years after initial case presentation, only 18 patients have been reported and many questions regarding clinical phenotype results of ancillary investigations remain unanswered, likely leading incomplete recognition consequently under-diagnosis. Additionally, little known about natural history disorder, genotype-phenotype correlations,...
Epoxyeicosatrienoic acids (EETs) derived from cytochrome P450 (CYP)-dependent metabolism of arachidonic acid are increased in the plasma women with preeclampsia as compared normal pregnancy and significantly higher fetal than maternal erythrocytes. We hypothesized that differences EET synthesis or feto-placental unit contributed to observed circulating EETs.To evaluate EETs, formation well expression relevant CYP isoforms metabolizing enzyme, soluble epoxide hydrolase (sEH), biopsies...
Brody disease is an inherited disorder of skeletal muscle function characterized by increasing impairment relaxation during exercise. The autosomal recessive form can be caused mutations in the ATP2A1 gene, which encodes for sarcoplasmic/endoplasmic reticulum Ca-ATPase 1 (SERCA1) protein. We studied 2 siblings affected disease. patients complained exercise-induced delay and stiffness since childhood had gene analysis ATP2A1. Morphologic biochemical studies were performed on a biopsy from...
Multiple myeloma (MM) accounts for ∼13% of all hematologic malignancies. Bortezomib treatment is effective in MM, but can be complicated with neurological side effects. We describe a patient symptomatic MM who had reversible metabolic myopathy associated bortezomib administration and pathologically characterized by excessive storage lipid droplets together mitochondrial abnormalities. In single-center prospective study, 14 out 24 patients were treated and, among these, 7 developed muscular...
Abstract Background Several viruses have been described as causes of acquired inflammatory myopathies; however, the mechanisms by which they cause muscle disease are still unclear. The aim this study was to describe laboratory features benign acute myositis in a small case series. Methods A detailed pathological and serological analysis performed five African migrants who developed an viral complicated rhabdomyolysis. Results Muscle biopsies clearly documented myopathy with histological...
Brody disease is an inherited skeletal muscle disorder clinically characterized by exercise-induced stiffness and delayed relaxation due to a diminished sarcoplasmic reticulum Ca2+-ATPase activity. The transmitted as autosomal recessive trait results from mutations in the ATP2A1 gene encoding sarcoplasmic/endoplasmic calcium ATPase 1 (SERCA1), protein that catalyzes ATP-dependent Ca2+ uptake cytosol lumen of reticulum. Mutations SERCA1-encoding are absent quote patients with pattern have...
Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including proximal limb-girdle muscular dystrophy, spheroid body myopathy, and late-onset distal myopathy. We describe a family carrying heterozygous deletion (Tyr4_His9del) that clinically was characterized by an early-adult onset muscle weakness pathologically myofibrillar myopathy (MFM). Molecular modeling of full-length revealed 4-YERPKH-9 amino acids are involved local...
Stromal interaction molecule 1 (STIM1) is a reticular Ca2+ sensor composed of luminal and cytosolic domain. Autosomal dominant mutations in STIM1 cause tubular aggregate myopathy Stormorken syndrome or its variant York platelet syndrome. In this study we aimed to expand the features related new variants STIM1.We performed cross-sectional individuals harboring monoallelic recruited at five tertiary centers involved inherited myopathies analyzed with multigene-targeted panel.We identified...
Myofibrillar myopathies (MFMs) are a group of hereditary neuromuscular disorders sharing common histological features, such as myofibrillar derangement, Z-disk disintegration, and the accumulation degradation products into protein aggregates. They caused by mutations in several genes that encode either structural proteins or molecular chaperones. Nevertheless, mechanisms which mutated result aggregation still unknown. To unveil role myotilin αB-crystallin pathogenesis MFM, we injected...
MDs (mitochondrial diseases) are a clinically heterogeneous group of disorders characterized by impairment the respiratory chain function with altered oxidative phosphorylation. We tested hypothesis that vascular endothelium is affected increased stress in MDs. A total 12 patients and pair-matched controls were studied. Endothelial was assessed measuring FMD (flow-mediated vasodilation) brachial common femoral arteries. The test repeated after vitamin C (500 mg, twice day) E (400 once...