FT
Francesca Tagliavini
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Mitochondrial Function and Pathology · Muscle Physiology and Disorders · Hereditary Neurological Disorders
0000-0001-5679-2156
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Publications (17)
- SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder Save
- First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness Save
- Novel mutations in DNA2 associated with myopathy and mtDNA instability Save
- DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions Save
- Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy Save
- Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models Save
- Incomplete penetrance in mitochondrial optic neuropathies Save
- Collagen VI–NG2 axis in human tendon fibroblasts under conditions mimicking injury response Save
- PI-PLCβ1b affects Akt activation, cyclin E expression, and caspase cleavage, promoting cell survival in pro-B-lymphoblastic cells exposed to oxidative stress Save
- Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene Save
- Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies Save
- Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts Save
- Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors Save
- NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models Save
- Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies Save
- Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H <inf>2</inf>O <inf>2</inf> Save
- Multiple forms of PKR present in the nuclei of acute leukemia cells represent an active kinase that is responsive to stress Save