C
Caterina Garone
Researcher at University of Bologna
Publications - 59
Citations - 2812
Caterina Garone is an academic researcher from University of Bologna. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrion. The author has an hindex of 28, co-authored 57 publications receiving 2363 citations. Previous affiliations of Caterina Garone include MRC Mitochondrial Biology Unit & Columbia University Medical Center.
Papers
More filters
Journal ArticleDOI
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Sarah E. Calvo,Alison G. Compton,Steven G. Hershman,Steven G. Hershman,Sze Chern Lim,Sze Chern Lim,Daniel S. Lieber,Daniel S. Lieber,Elena J. Tucker,Elena J. Tucker,Adrienne Laskowski,Caterina Garone,Caterina Garone,Shangtao Liu,David B. Jaffe,John Christodoulou,John Christodoulou,Janice M. Fletcher,Damien L. Bruno,Jack Goldblatt,Salvatore DiMauro,David R. Thorburn,David R. Thorburn,Vamsi K. Mootha,Vamsi K. Mootha +24 more
TL;DR: target NGS in 42 unrelated infants with clinical and biochemical evidence of mitochondrial oxidative phosphorylation disease suggests that next-generation sequencing may be able to provide a molecular diagnosis for ~25% of currently unsolved cases of infantile mitochondrial disease.
Journal ArticleDOI
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Beverley Anderson,Paul R. Kasher,Josephine Mayer,Marcin Szynkiewicz,Emma M. Jenkinson,Sanjeev S. Bhaskar,Jill E. Urquhart,Sarah B. Daly,Jonathan E. Dickerson,James O'Sullivan,Elisabeth Oppliger Leibundgut,Joanne Muter,Ghada M H Abdel-Salem,Riyana Babul-Hirji,Peter Baxter,Andrea Berger,Andrea Berger,Luisa Bonafé,Janice E Brunstom-Hernandez,Johannes A. Buckard,David Chitayat,Wui K. Chong,Duccio Maria Cordelli,Patrick Ferreira,Joel Victor Fluss,Ewan Forrest,Emilio Franzoni,Caterina Garone,Caterina Garone,Simon Hammans,Gunnar Houge,Imelda Hughes,Sébastien Jacquemont,Pierre-Yves Jeannet,Rosalind J. Jefferson,Ram L. Kumar,Georg Kutschke,Staffan Lundberg,Charles Marques Lourenço,Ramesh Mehta,Sakkubai Naidu,Ken K. Nischal,Luís Catela Nunes,Katrin Õunap,Michel Philippart,Prab Prabhakar,Sarah Risen,Raphael Schiffmann,Calvin Soh,John B.P. Stephenson,Helen Stewart,Jon Stone,John Tolmie,Marjo S. van der Knaap,José Pedro Vieira,Catheline Vilain,Emma Wakeling,Vanessa Wermenbol,Andrea Whitney,Simon C. Lovell,Stefan Meyer,Stefan Meyer,John H. Livingston,Gabriela M. Baerlocher,Graeme C.M. Black,Gillian I. Rice,Yanick J. Crow +66 more
TL;DR: Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells.
Journal ArticleDOI
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
TL;DR: Early and accurate diagnosis of mitochondrial neurogastrointestinal encephalomyopathy, together with timely treatment of acute intercurrent illnesses, may retard disease progression and increase the number of patients eligible for allogeneic haematopoetic stem cell transplantation.
Journal ArticleDOI
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Tamar Harel,Wan Hee Yoon,Caterina Garone,Shen Gu,Zeynep Coban-Akdemir,Mohammad K. Eldomery,Jennifer E. Posey,Shalini N. Jhangiani,Jill A. Rosenfeld,Megan T. Cho,Stephanie Fox,Marjorie Withers,Stephanie M. Brooks,Theodore Chiang,Lita Duraine,Serkan Erdin,Serkan Erdin,Bo Yuan,Yunru Shao,Elie Moussallem,Costanza Lamperti,Maria Anna Donati,Joshua D. Smith,Heather M. McLaughlin,Christine M. Eng,Magdalena Walkiewicz,Fan Xia,Tommaso Pippucci,Pamela Magini,Marco Seri,Massimo Zeviani,Michio Hirano,Jill V. Hunter,Myriam Srour,Stefano Zanigni,Richard A. Lewis,Donna M. Muzny,Timothy Lotze,Eric Boerwinkle,Eric Boerwinkle,Richard A. Gibbs,Scott E. Hickey,Brett H. Graham,Yaping Yang,Daniela Buhas,Daniela Buhas,Donna M. Martin,Lorraine Potocki,Claudio Graziano,Hugo J. Bellen,James R. Lupski +50 more
TL;DR: It is concluded that the p.Arg528Trp variant functions through a dominant-negative mechanism that results in small mitochondria that trigger mitophagy, resulting in a reduction in mitochondrial content.
Journal ArticleDOI
Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation
Shingo Kariya,Teresa Obis,Caterina Garone,Turgay Akay,Fusako Sera,Shinichi Iwata,Shunichi Homma,Umrao R. Monani +7 more
TL;DR: It is demonstrated that relative maturity of the NMJ determines the temporal requirement for the SMN protein, and the use of potent but potentially deleterious SMN-enhancing agents could be tapered in human patients once the neuromuscular system matures and reintroduced as needed to enhance SMN for remodeling aged or injured NMJs.