A5062535557- Muscle Physiology and Disorders
- Autophagy in Disease and Therapy
- RNA regulation and disease
- interferon and immune responses
- Polyamine Metabolism and Applications
- Zebrafish Biomedical Research Applications
- Genetic Neurodegenerative Diseases
- Adipose Tissue and Metabolism
- Protein Tyrosine Phosphatases
- Cellular transport and secretion
- Neurogenetic and Muscular Disorders Research
- Platelet Disorders and Treatments
- Muscle metabolism and nutrition
- Nutrition and Health in Aging
- Calcium signaling and nucleotide metabolism
- Mesenchymal stem cell research
- Adipokines, Inflammation, and Metabolic Diseases
- Sirtuins and Resveratrol in Medicine
- Immune Cell Function and Interaction
- Galectins and Cancer Biology
- Pharmacology and Obesity Treatment
- Advanced Glycation End Products research
- Proteoglycans and glycosaminoglycans research
- Pluripotent Stem Cells Research
- Signaling Pathways in Disease
University of Padua
2013-2022
Autophagy is a self-degradative process responsible for the clearance of damaged or unnecessary cellular components. We have previously found that persistence dysfunctional organelles due to autophagy failure key event in pathogenesis COL6/collagen VI-related myopathies, and demonstrated reactivation proper autophagic flux rescues muscle defects Col6a1-null (col6a1(-/-)) mice. Here we show treatment with spermidine, naturally occurring nontoxic inducer, beneficial col6a1(-/-) Systemic...
A pilot clinical trial based on nutritional modulation was designed to assess the efficacy of a one-year low-protein diet in activating autophagy skeletal muscle patients affected by COL6/collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy are rare inherited disorders caused mutations COL6 genes for which no cure is yet available. Studies col6 null mice revealed that myofiber degeneration involves defects forced activation results amelioration...
The essential role of autophagy in muscle homeostasis has been clearly demonstrated by phenotype analysis mice with muscle-specific inactivation genes encoding autophagy-related proteins. Ambra1 is a key component the Beclin 1 complex and, zebrafish, it encoded two paralogous genes, ambra1a and ambra1b, both required for normal embryogenesis larval development. In this study we focused on function Ambra1, positive regulator autophagic process, during skeletal development means morpholino...
Introduction Care Considerations supported by the Centers for Disease Control and Prevention management of Duchenne muscular dystrophy were published in 2010, but there has been limited study implementation United States.Methods A questionnaire collecting information about standard care practices perceived barriers was piloted 9 clinic directors facilities within Muscular Dystrophy Surveillance, Tracking Research network.Results Six completed questionnaire; 1 adult-only excluded.Over 80%...
Collagen VI (ColVI) is an abundant and distinctive extracellular matrix protein secreted by fibroblasts in different tissues. Human diseases linked to mutations on ColVI genes are primarily affecting skeletal muscle due non-cell autonomous myofiber defects. To date, it not known whether how fibroblast homeostasis affected deficiency, a critical missing information as this may strengthen the use of patients' for preclinical purposes. Here, we established primary immortalized cultures from...
Endoplasmic reticulum stress is an emerging significant player in the molecular pathology of connective tissue disorders. In response to endoplasmic stress, cells can upregulate macroautophagy/autophagy, a fundamental cellular homeostatic process used by degrade and recycle proteins or remove damaged organelles. these scenarios, autophagy activation support cell survival. Here we demonstrated vitro vivo approaches that megakaryocytes derived from col6a1−⁄− (collagen, type VI, alpha 1) null...
The induction of autophagy, the catabolic pathway by which damaged or unnecessary cellular components are subjected to lysosome-mediated degradation and recycling, is impaired in Collagen VI (COL6) null mice COL6-related myopathies. This autophagic impairment causes an accumulation dysfunctional mitochondria, turn leads myofiber degeneration. Our previous work showed that reactivation autophagy myopathies beneficial for muscle structure function both animal model patients. Here we show...
The EPG5 protein is a RAB7A effector involved in fusion specificity between autophagosomes and late endosomes or lysosomes during macroautophagy/autophagy. Mutations the human gene cause rare severe multisystem disorder called Vici syndrome. In this work, we show that zebrafish epg5-/- mutants from both heterozygous incrossed homozygous matings are viable can develop to age of sexual maturity without conspicuous defects external appearance. agreement with dysfunctional autophagy syndrome,...
The four-and-half LIM domain protein 1 (FHL1) is highly expressed in skeletal and cardiac muscle. Mutations of the FHL1 gene have been associated with diverse chronic myopathies including reducing body myopathy (RBM), rigid spine syndrome, Emery-Dreifuss muscular dystrophy. We investigated a family mutation (p.C150R) second FHL1. In this family, brother sister were affected by their mother had mild lower limbs weakness. 34-year-old female an early progressive rigidity cervical severe...
In zebrafish, two paralogous genes, activating molecule in beclin-1 (BECN1)-regulated autophagy
Abstract Hemostatic abnormalities and impaired platelet function have been described in patients affected by connective tissue disorders. We observed a moderate bleeding tendency collagen VI–related disorders investigated the defects functionality, whose mechanisms are unknown. demonstrated that megakaryocytes express VI is involved regulation of functional production. By exploiting VI–null mouse model (Col6a1−/−), we found platelets display significantly increased susceptibility to...
Pterostilbene (Pt) is a potentially beneficial plant phenol. In contrast to many other natural compounds (including the more celebrated resveratrol), Pt concentrations producing significant effects in vitro can also be reached with relative ease vivo. Here we focus on some of mechanisms underlying its activity, those involved activation transcription factor EB (TFEB). A set processes leading this outcome starts generation ROS, attributed interaction complex I mitochondrial respiratory chain,...