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Research Associate
Children’s Hospital of Philadelphia Research Institute
Colket Translational Research Building
3501 Civic Center Boulevard, Room 6100
Philadelphia, PA 
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 267 425 3066
Fax: 267-426-0978

Research Statement

Dr. Alessia Angelin began her work on mitochondrial physiology and apoptosis as an undergraduate student in 2002 in the Professor Paolo Bernardi’s laboratory, University of Padova - Italy. At the University of Padova, she stayed on to pursue a Ph.D. in Molecular and Cellular Biology and Pathology, which she obtained in the 2007 defending a thesis on the role of mitochondria in the pathogenesis of Ullrich congenital muscular dystrophy. She joined the laboratory of Professor Douglas C. Wallace in April 2010, first at the Center for Molecular and Mitochondrial Medicine and Genetics, University of California Irvine, and starting in July at the Children’s Hospital of Philadelphia, where Dr. Wallace has reconstituted his center as the Center for Mitochondrial and Epigenomic Medicine. Her principal interest is to understand the pathogenic mechanism that involves mitochondria and the mitochondria permeability transition pore in human collagen VI related muscular dystrophies and the identification of possible molecular targets for therapy. In particular, she is using biochemical, molecular and functional assays in vitro and immunofluorescence staining in situ to study the mitochondrial function and dynamics in the muscle of the mouse model of these muscular dystrophies during the progression of the disorder. With her colleagues, she is also working on determining the effects on the mitochondrial DNA (mtDNA) of the collagen VI mutations.  Dr. Angelin is also currently involved in a study of a human cardiomyopathy caused by a mutation in the adenine nucleotide translocator gene, and in particular she is focusing on the role of the permeability transition pore in the ANT deficient cells and the development of an AAV-based gene therapy approach.  Using a similar AAV-mediated gene therapy strategy she is contributing to the development of a possible cure for the retinopathy in the mouse model of the Leber hereditary optic neuropathy. 

Selected Publications

  • Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Blaauw B, Tiepolo T, Urciuolo A, Maraldi NM, Bernardi P, Sandri M and Bonaldo P.  Autophagy is defective in collagen VI myopathies and its induction protects against muscle degeneration. Nat Med 16(11):1313-20, 2010.
  • Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlini L, Nicolosi L, Finetti F, Braghetta P, Vuagniaux G, Dumont JM, Baldari CT, Bonaldo P and Bernardi P. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice. Br J Pharmacol 157:1042-52, 2009.
  • Porcelli AM, Angelin A, Ghelli A, Mariani E, Martinuzzi A, Carelli V, Petronilli V, Bernardi P and Rugolo M. Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels. J Biol Chem 284:2045-52, 2009.
  • Angelin A, Bonaldo P, Bernardi P. Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy  Biochim Biophys Acta 1777:893-6, 2008.
  • Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P and Bernardi P. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy. Novel therapeutic perspectives with cyclosporins. Proc Natl Acad Sci USA104:991-6, 2007.

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