Foto del docente

Caterina Garone

Associate Professor

Department of Medical and Surgical Sciences

Academic discipline: MED/03 Medical Genetics

Publications

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]

Lopez-Gomez C.; Levy R.J.; Sanchez-Quintero M.J.; Juanola-Falgarona M.; Barca E.; Garcia-Diaz B.; Tadesse S.; Garone C.; Hirano M., Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency, «ANNALS OF NEUROLOGY», 2017, 81, pp. 641 - 652 [Scientific article]Open Access

Emmanuele V.; Kubota A.; Garcia-Diaz B.; Garone C.; Akman H.O.; Sanchez-Gutierrez D.; Escudero L.M.; Kariya S.; Homma S.; Tanji K.; Quinzii C.M.; Hirano M., Fhl1 W122S causes loss of protein function and late-onset mild myopathy, «HUMAN MOLECULAR GENETICS», 2015, 24, pp. 714 - 726 [Scientific article]

Garcia-Diaz B.; Garone C.; Barca E.; Mojahed H.; Gutierrez P.; Pizzorno G.; Tanji K.; Arias-Mendoza F.; Quinzii C.M.; Hirano M., Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy, «BRAIN», 2014, 137, pp. 1337 - 1349 [Scientific article]

Garone C.; Garcia-Diaz B.; Emmanuele V.; Lopez L.C.; Tadesse S.; Akman H.O.; Tanji K.; Quinzii C.M.; Hirano M., Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency, «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 1016 - 1027 [Scientific article]

Kariya S.; Obis T.; Garone C.; Akay T.; Sera F.; Iwata S.; Homma S.; Monani U.R., Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation, «THE JOURNAL OF CLINICAL INVESTIGATION», 2014, 124, pp. 785 - 800 [Scientific article]

Yien Y.Y.; Robledo R.F.; Schultz I.J.; Takahashi-Makise N.; Gwynn B.; Bauer D.E.; Dass A.; Yi G.; Li L.; Hildick-Smith G.J.; Cooney J.D.; Pierce E.L.; Mohler K.; Dailey T.A.; Miyata N.; Kingsley P.D.; Garone C.; Hattangadi S.M.; Huang H.; Chen W.; Keenan E.M.; Shah D.I.; Schlaeger T.M.; Dimauro S.; Orkin S.H.; Cantor A.B.; Palis J.; Koehler C.M.; Lodish H.F.; Kaplan J.; Ward D.M.; Dailey H.A.; Phillips J.D.; Peters L.L.; Paw B.H., TMEM14C is required for erythroid mitochondrial heme metabolism, «THE JOURNAL OF CLINICAL INVESTIGATION», 2014, 124, pp. 4294 - 4304 [Scientific article]

Hildick-Smith G.J.; Cooney J.D.; Garone C.; Kremer L.S.; Haack T.B.; Thon J.N.; Miyata N.; Lieber D.S.; Calvo S.E.; Akman H.O.; Yien Y.Y.; Huston N.C.; Branco D.S.; Shah D.I.; Freedman M.L.; Koehler C.M.; Italiano Jr. J.E.; Merkenschlager A.; Beblo S.; Strom T.M.; Meitinger T.; Freisinger P.; Donati M.A.; Prokisch H.; Mootha V.K.; DiMauro S.; Paw B.H., Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4, «AMERICAN JOURNAL OF HUMAN GENETICS», 2013, 93, pp. 906 - 914 [Scientific article]

Garone C.; Donati M.A.; Sacchini M.; Garcia-Diaz B.; Bruno C.; Calvo S.; Mootha V.K.; DiMauro S., Mitochondrial encephalomyopathy due to a novel mutation in ACAD9, «JAMA NEUROLOGY», 2013, 70, pp. 1177 - 1179 [Scientific article]

Manoli I.; Sysol J.R.; Li L.; Houillier P.; Garone C.; Wang C.; Zerfas P.M.; Cusmano-Ozog K.; Young S.; Trivedi N.S.; Cheng J.; Sloan J.L.; Chandler R.J.; Abu-Asab M.; Tsokos M.; Elkahloun A.G.; Rosen S.; Enns G.M.; Berry G.T.; Hoffmann V.; DiMauro S.; Schnermann J.; Venditti C.P., Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia, «PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA», 2013, 110, pp. 13552 - 13557 [Scientific article]

Quinzii C.M.; Garone C.; Emmanuele V.; Tadesse S.; Krishna S.; Dorado B.; Hirano M., Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice, «FASEB JOURNAL», 2013, 27, pp. 612 - 621 [Scientific article]

Hirano M.; Garone C.; Quinzii C.M., CoQ 10 deficiencies and MNGIE: Two treatable mitochondrial disorders, «BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS», 2012, 1820, pp. 625 - 631 [Scientific article]

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