Publications
2017
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley IM, Rosser L, Lowndes J, Fratter C, Ferguson DJP, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AKatharina, Votruba M & Poulton J (2017)
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88, 131-142
Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF & Horvath R (2017)
Genetic heterogeneity of motor neuropathies. Neurology 88, 1226-1234
2015
Rocca MA, Bianchi-Marzoli S, Messina R, Cascavilla MLucia, Zeviani M, Lamperti C, Milesi J, Carta A, Cammarata G, Leocani L, Lamantea E, Bandello F, Comi G, Falini A & Filippi M (2015)
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations. J Neurol 262, 1216-27
Prudent J, Zunino R, Sugiura A, Mattie S, Shore GC & McBride HM (2015)
MAPL SUMOylation of Drp1 Stabilizes an ER/Mitochondrial Platform Required for Cell Death. Mol Cell 59, 941-55
Civiletto G, Varanita T, Cerutti R, Gorletta T, Barbaro S, Marchet S, Lamperti C, Viscomi C, Scorrano L & Zeviani M (2015)
Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. Cell Metab 21, 845-54
Varanita T, Soriano MEugenia, Romanello V, Zaglia T, Quintana-Cabrera R, Semenzato M, Menabò R, Costa V, Civiletto G, Pesce P, Viscomi C, Zeviani M, Di Lisa F, Mongillo M, Sandri M & Scorrano L (2015)
The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damage. Cell Metab 21, 834-44
Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AMaria, Rugolo M, Valentino MLucia, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EMaria, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A & Zeviani M (2015)
Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Ann Neurol 78, 21-38
2014
Barboni P, Savini G, Cascavilla MLucia, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino MLucia, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Marzoli SBianchi, Zeviani M, Sadun AA, Bandello F & Carelli V (2014)
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. Am J Ophthalmol 158, 628-36.e3
Sood A, Jeyaraju DVijey, Prudent J, Caron A, Lemieux P, McBride HMay, Laplante M, Tóth K & Pellegrini L (2014)
A Mitofusin-2-dependent inactivating cleavage of Opa1 links changes in mitochondria cristae and ER contacts in the postprandial liver. Proc Natl Acad Sci U S A 111, 16017-22
2013
Barboni P, Valentino MLucia, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M & Carelli V (2013)
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain 136, e231
2011
Lodi R, Tonon C, Valentino MLucia, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B & Carelli V (2011)
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol 68, 67-73
2010
Kieper N, Holmstrom KM, Ciceri D, Fiesel FC, Wolburg H, Ziviani E, Whitworth AJ, L Martins M, Kahle PJ & Krüger R (2010)
Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1. Exp Cell Res 316, 1213-24
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P & Chinnery PF (2010)
Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133, 771-86
Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri A, Sadun F, Zeviani M, Sadun AA, Schimpf S, Wissinger B & Carelli V (2010)
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Ophthalmology 117, 1547-53
Hudson G, Yu-Wai-Man P, Griffiths PG, Caporali L, Salomao SS, Berezovsky A, Carelli V, Zeviani M & Chinnery PF (2010)
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. Mol Vis 16, 2760-4
2003
Bach D, Pich S, Soriano FX, Vega N, Baumgartner B, Oriola J, Daugaard JR, Lloberas J, Camps M, Zierath JR, Rabasa-Lhoret R, Wallberg-Henriksson H, Laville M, Palacín M, Vidal H, Rivera F, Brand M & Zorzano A (2003)
Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. J Biol Chem 278, 17190-7
