M
Massimo Zeviani
Researcher at University of Padua
Publications - 491
Citations - 43520
Massimo Zeviani is an academic researcher from University of Padua. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial disease. The author has an hindex of 104, co-authored 478 publications receiving 39743 citations. Previous affiliations of Massimo Zeviani include Medical Research Council & French Institute of Health and Medical Research.
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Journal ArticleDOI
Identification and characterization of a spinal muscular atrophy-determining gene
Suzie Lefebvre,Lydie Burglen,Sophie Reboullet,Olivier Clermont,Philippe Burlet,Louis Viollet,Bernard Bénichou,Corinne Cruaud,Philippe Millasseau,Massimo Zeviani,Denis Le Paslier,Jean Frézal,Daniel Cohen,Jean Weissenbach,Arnold Munnich,Judith Melki +15 more
TL;DR: The inverted duplication of a 500 kb element in normal chromosomes is described and the critical region is narrowed to 140 kb within the telomeric region, suggesting that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene.
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Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
Carlos T. Moraes,Salvatore DiMauro,Massimo Zeviani,Anne Lombès,Sara Shanske,Armand F. Miranda,Hirofumi Nakase,Eduardo Bonilla,Lineu Cesar Werneck,Serenella Servidei,Ikuya Nonaka,Yasutoshi Koga,Alfred J. Spiro,A. Keith W. Brownell,Beny Schmidt,Donald L. Schotland,Mary L. Zupanc,Darryl C. DeVivo,Eric A. Schon,Lewis P. Rowland +19 more
TL;DR: It is concluded that deletions of muscle mitochondrial DNA are associated with ophthalmoplegia and may result in impaired mitochondrial function, however, the precise relation between clinical and biochemical phenotypes and deletions remains to be defined.
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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Johannes N. Spelbrink,Fang Yuan Li,Valeria Tiranti,Kaisu Nikali,Qiu Ping Yuan,Muhammed Tariq,Sjoerd Wanrooij,Nuria Garrido,Giacomo P. Comi,Lucia Morandi,Lucio Santoro,Antonio Toscano,Gian Maria Fabrizi,Hannu Somer,R Croxen,David Beeson,Joanna Poulton,Anu Suomalainen,Howard T. Jacobs,Massimo Zeviani,Catharina Larsson +20 more
TL;DR: A novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases is reported, inferred to be critical for lifetime maintenance of human mtDNA integrity.
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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
Giorgio Casari,Maurizio De Fusco,Sonia Ciarmatori,Massimo Zeviani,Marina Mora,Patricio Fernandez,Giuseppe De Michele,Alessandro Filla,Sergio Cocozza,Roberto Marconi,Alexandre Dürr,Bertrand Fontaine,Andrea Ballabio +12 more
TL;DR: Analysis of muscle biopsies from two patients carrying Paraplegin mutations showed typical signs of mitochondrial OXPHOS defects, thus suggesting a mechanism for neurodegeneration in HSP-type disorders.
Journal ArticleDOI
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation
Joslyn K. Brunelle,Eric L. Bell,Nancy Quesada,Kristel Vercauteren,Valeria Tiranti,Massimo Zeviani,Richard C. Scarpulla,Navdeep S. Chandel +7 more
TL;DR: It is shown that a small interfering RNA (siRNA) against the Rieske iron-sulfur protein of mitochondrial complex III prevents the hypoxic stabilization of HIF-1 alpha protein.