A5045372509- Autophagy in Disease and Therapy
- Muscle Physiology and Disorders
- Polyamine Metabolism and Applications
- Cell Adhesion Molecules Research
- Neurogenetic and Muscular Disorders Research
- Erythrocyte Function and Pathophysiology
- Pluripotent Stem Cells Research
- Nuclear Structure and Function
- Genetic Neurodegenerative Diseases
- Exercise and Physiological Responses
- Alzheimer's disease research and treatments
- Mesenchymal stem cell research
- Adipose Tissue and Metabolism
- Protease and Inhibitor Mechanisms
- Adipokines, Inflammation, and Metabolic Diseases
- Orthopaedic implants and arthroplasty
- Dermatologic Treatments and Research
- Zebrafish Biomedical Research Applications
- Advanced Glycation End Products research
University of Padua
2011-2023
Autophagy is a catabolic process that provides the degradation of altered/damaged organelles through fusion between autophagosomes and lysosomes. Proper regulation autophagic flux fundamental for homeostasis skeletal muscles in physiological conditions response to stress. Defective as well excessive autophagy detrimental muscle health has pathogenic role several forms diseases. Recently, we found defective activation machinery plays key pathogenesis muscular dystrophies linked collagen VI....
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...
Collagen VI is an extracellular matrix (ECM) protein with a broad distribution in different tissues and mostly deposited at the close periphery of cell surface. Previous studies revealed that collagen protects neurons from toxicity amyloid-βpeptides UV-induced damage. However, physiological role this central nervous system (CNS) remains unknown. Here, we established primary neural cultures murine cortex hippocampus, carried out vitro vivo wild-type null (Col6a1â/â) mice. Col6a1â/â...
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...
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...
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...
COL6 (collagen type VI)-related myopathies (COL6-RM) are a distinct group of inherited muscle disorders caused by mutations genes and characterized early-onset weakness, for which no cure is available yet. Key pathophysiological features COL6-deficient muscles involve impaired macroautophagy/autophagy, mitochondrial dysfunction, neuromuscular junction fragmentation myofiber apoptosis. Targeting autophagy dietary means elicited beneficial effects in both col6a1 null (col6a1–/–) mice COL6-RM...