F
Federica Invernizzi
Researcher at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Publications - 136
Citations - 4223
Federica Invernizzi is an academic researcher from Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. The author has contributed to research in topics: Liver transplantation & Medicine. The author has an hindex of 34, co-authored 122 publications receiving 3462 citations. Previous affiliations of Federica Invernizzi include University of Siena & University of Milan.
Papers
More filters
Journal ArticleDOI
Clinical and molecular findings in children with complex I deficiency.
Marianna Bugiani,Federica Invernizzi,Simona Alberio,Egill Briem,Eleonora Lamantea,Franco Carrara,Isabella Moroni,Laura Farina,Marco Spada,Maria Alice Donati,Graziella Uziel,Massimo Zeviani +11 more
TL;DR: In this article, the entire mtDNA and 11 nuclear encoded complex I subunits were analyzed in 23 isolated complex I-deficient children, classified into five clinical groups: Leigh syndrome, progressive leukoencephalopathy, neonatal cardiomyopathy, severe infantile lactic acidosis, and a miscellaneous group of unspecified encephalomyopathies.
Journal ArticleDOI
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Daniele Ghezzi,Paola Goffrini,Graziella Uziel,Rita Horvath,Rita Horvath,Thomas Klopstock,Hanns Lochmüller,Hanns Lochmüller,Pio D'Adamo,Paolo Gasparini,Tim M. Strom,Holger Prokisch,Federica Invernizzi,Ileana Ferrero,Massimo Zeviani +14 more
TL;DR: SDHAF1 is the first bona fide SDH assembly factor reported in any organism, and encoding a new LYR-motif protein, in infantile leukoencephalopathy with defective succinate dehydrogenase (SDH, complex II).
Journal ArticleDOI
Clinical and molecular features of mitochondrial DNA depletion syndromes.
Antonella Spinazzola,Federica Invernizzi,Franco Carrara,Eleonora Lamantea,Alice Donati,M. DiRocco,I. Giordano,Mija Meznaric-Petrusa,Enrico Baruffini,Iliana Ferrero,Massimo Zeviani +10 more
TL;DR: The mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype–phenotype correlations are defined; five of the authors' patients carried previously unreported mutations in one of the eight MDS genes.
Journal ArticleDOI
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Daniele Ghezzi,Enrico Baruffini,Tobias B. Haack,Federica Invernizzi,Laura Melchionda,Cristina Dallabona,Tim M. Strom,Rossella Parini,Alberto Burlina,Thomas Meitinger,Holger Prokisch,Ileana Ferrero,Massimo Zeviani +12 more
TL;DR: Next-generation exome sequencing was used to identify mutations in MTO1, which encodes mitochondrial translation optimization 1, and mutant muscle and fibroblasts showed variably combined reduction in mtDNA-dependent respiratory chain activities and in vivo mtDNA translation was impaired in the mutant yeast strains.
Journal ArticleDOI
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
Sabrina Dusi,Lorella Valletta,Tobias B. Haack,Yugo Tsuchiya,Paola Venco,Sebastiano Pasqualato,Paola Goffrini,Marco Tigano,Nikita Demchenko,Thomas Wieland,Thomas Schwarzmayr,Tim M. Strom,Federica Invernizzi,Barbara Garavaglia,Allison Gregory,Lynn Sanford,Jeffrey Hamada,Conceição Bettencourt,Henry Houlden,Luisa Chiapparini,Giovanna Zorzi,Manju A. Kurian,Manju A. Kurian,Nardo Nardocci,Holger Prokisch,Susan J. Hayflick,Ivan Gout,Valeria Tiranti +27 more
TL;DR: Changes in RNA and protein expression levels of CoA synthase, as well as CoA amount, are demonstrated in fibroblasts derived from the two clinical cases and in yeast, demonstrating the second inborn error of coenzyme A biosynthesis to be implicated in NBIA.