Foto del docente

Caterina Garone

Senior assistant professor (fixed-term)

Department of Medical and Surgical Sciences

Academic discipline: MED/03 Medical Genetics

Publications

Garone C.; Pietra A.; Nesci S., From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases, «LIFE», 2022, 12, Article number: 401 , pp. 401 - 420 [Scientific article]Open Access

Boschetti E.; D'Angelo R.; Tardio M.L.; Costa R.; Giordano C.; Accarino A.; Malagelada C.; Clavenzani P.; Tugnoli V.; Caio G.; Righi V.; Garone C.; D'Errico A.; Cenacchi G.; Dotti M.T.; Stanghellini V.; Sternini C.; Pironi L.; Rinaldi R.; Carelli V.; De Giorgio R., Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy, «AMERICAN JOURNAL OF PHYSIOLOGY: GASTROINTESTINAL AND LIVER PHYSIOLOGY», 2021, 320, pp. G768 - G779 [Scientific article]

Mancuso M.; La Morgia C.; Valentino M.L.; Ardissone A.; Lamperti C.; Procopio E.; Garone C.; Siciliano G.; Musumeci O.; Toscano A.; Primiano G.; Servidei S.; Carelli V., SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy, «MITOCHONDRION», 2021, 58, pp. 243 - 245 [Scientific article]

Mercatelli D.; Balboni N.; De Giorgio F.; Aleo E.; Garone C.; Giorgi F.M., The Transcriptome of SH-SY5Y at Single-Cell Resolution: A CITE-Seq Data Analysis Workflow, «METHODS AND PROTOCOLS», 2021, 4, Article number: 28 , pp. 1 - 16 [Scientific article]Open Access

Protasoni M.; Bruno C.; Donati M.A.; Mohamoud K.; Severino M.; Allegri A.; Robinson A.J.; Reyes A.; Zeviani M.; Garone C., Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement, «MOLECULAR GENETICS AND METABOLISM», 2020, 129, pp. 26 - 34 [Scientific article]Open Access

Dominguez-Gonzalez C.; Madruga-Garrido M.; Mavillard F.; Garone C.; Aguirre-Rodriguez F.J.; Donati M.A.; Kleinsteuber K.; Marti I.; Martin-Hernandez E.; Morealejo-Aycinena J.P.; Munell F.; Nascimento A.; Kalko S.G.; Sardina M.D.; Alvarez del Vayo C.; Serrano O.; Long Y.; Tu Y.; Levin B.; Thompson J.L.P.; Engelstad K.; Uddin J.; Torres-Torronteras J.; Jimenez-Mallebrera C.; Marti R.; Paradas C.; Hirano M., Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy, «ANNALS OF NEUROLOGY», 2019, 86, pp. 293 - 303 [Scientific article]Open Access

Lindsey Van Haute, Song-Yi Lee, Beverly J. McCann, Christopher A. Powell, Dhiru Bansal, Lina Vasiliauskaitė, Caterina Garone, Sanghee Shin, Jong-Seo Kim, Michaela Frye, Joseph G. Gleeson, Eric A. Miska, Hyun-Woo Rhee, Michal Minczuk, NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs, «NUCLEIC ACIDS RESEARCH», 2019, 47, pp. 8720 - 8733 [Scientific article]Open Access

Manoli I.; Sysol J.R.; Epping M.W.; Li L.; Wang C.; Sloan J.L.; Pass A.; Gagne J.; Ktena Y.P.; Li L.; Trivedi N.S.; Ouattara B.; Zerfas P.M.; Hoffmann V.; Abu-Asab M.; Tsokos M.G.; Kleiner D.E.; Garone C.; Cusmano-Ozog K.; Enns G.M.; Vernon H.J.; Andersson H.C.; Grunewald S.; Elkahloun A.G.; Girard C.L.; Schnermann J.; DiMauro S.; Andres-Mateos E.; Vandenberghe L.H.; Chandler R.J.; Venditti C.P., FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia, «JCI INSIGHT», 2018, 3, pp. 1 - 16 [Scientific article]

Kullar P.J.; Gomez-Duran A.; Gammage P.A.; Garone C.; Minczuk M.; Golder Z.; Wilson J.; Montoya J.; Hakli S.; Karppa M.; Horvath R.; Majamaa K.; Chinnery P.F., Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family, «BRAIN», 2018, 141, pp. 55 - 62 [Scientific article]

Pacitti, Dario; Levene, Michelle; Garone, Caterina; Nirmalananthan, Niranjanan; Bax, Bridget E, Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far, «FRONTIERS IN GENETICS», 2018, 9, Article number: 669 , pp. 1 - 22 [Scientific article]

Garone C.; Taylor R.W.; Nascimento A.; Poulton J.; Fratter C.; Dominguez-Gonzalez C.; Evans J.C.; Loos M.; Isohanni P.; Suomalainen A.; Ram D.; Imelda Hughes M.; McFarland R.; Barca E.; Gomez C.L.; Jayawant S.; Thomas N.D.; Manzur A.Y.; Kleinsteuber K.; Martin M.A.; Kerr T.; Gorman G.S.; Sommerville E.W.; Chinnery P.F.; Hofer M.; Karch C.; Ralph J.; Camara Y.; Madruga-Garrido M.; Dominguez-Carral J.; Ortez C.; Emperador S.; Montoya J.; Chakrapani A.; Kriger J.F.; Schoenaker R.; Levin B.; Thompson J.L.P.; Long Y.; Rahman S.; Donati M.A.; Dimauro S.; Hirano M., Retrospective natural history of thymidine kinase 2 deficiency, «JOURNAL OF MEDICAL GENETICS», 2018, 55, pp. 515 - 521 [Scientific article]

Garone C.; Viscomi C., Towards a therapy for mitochondrial disease: An update, «BIOCHEMICAL SOCIETY TRANSACTIONS», 2018, 46, pp. 1247 - 1261 [Scientific article]

Garone C.; Gurgel-Giannetti J.; Sanna-Cherchi S.; Krishna S.; Naini A.; Quinzii C.M.; Hirano M., A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder, «JOURNAL OF CHILD NEUROLOGY», 2017, 32, pp. 246 - 250 [Scientific article]

Feichtinger R.G.; Olahova M.; Kishita Y.; Garone C.; Kremer L.S.; Yagi M.; Uchiumi T.; Jourdain A.A.; Thompson K.; D'Souza A.R.; Kopajtich R.; Alston C.L.; Koch J.; Sperl W.; Mastantuono E.; Strom T.M.; Wortmann S.B.; Meitinger T.; Pierre G.; Chinnery P.F.; Chrzanowska-Lightowlers Z.M.; Lightowlers R.N.; DiMauro S.; Calvo S.E.; Mootha V.K.; Moggio M.; Sciacco M.; Comi G.P.; Ronchi D.; Murayama K.; Ohtake A.; Rebelo-Guiomar P.; Kohda M.; Kang D.; Mayr J.A.; Taylor R.W.; Okazaki Y.; Minczuk M.; Prokisch H., Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies, «AMERICAN JOURNAL OF HUMAN GENETICS», 2017, 101, pp. 525 - 538 [Scientific article]

Garone C.; D'Souza A.R.; Dallabona C.; Lodi T.; Rebelo-Guiomar P.; Rorbach J.; Donati M.A.; Procopio E.; Montomoli M.; Guerrini R.; Zeviani M.; Calvo S.E.; Mootha V.K.; DiMauro S.; Ferrero I.; Minczuk M., Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome, «HUMAN MOLECULAR GENETICS», 2017, 26, pp. 4257 - 4266 [Scientific article]

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