GARONE, CATERINA
GARONE, CATERINA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Docenti di ruolo di IIa fascia
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
2024 Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Grippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
2024 Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.; Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C.
Mitochondrial metabolism in neural stem cells and implications for neurodevelopmental and neurodegenerative diseases
2024 Garone, C; De Giorgio, F; Carli, S
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder
2023 Pietra, Andrea; Palombo, Flavia; Giannotta, Melania; Maffei, Monica; Fiorini, Claudio; Costa, Roberta; Cenacchi, Giovanna; Carelli, Valerio; Cordelli, Duccio Maria; Pini, Antonella; Garone, Caterina
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit
2022 Rebelo-Guiomar, Pedro; Pellegrino, Simone; Dent, Kyle C; Sas-Chen, Aldema; Miller-Fleming, Leonor; Garone, Caterina; Van Haute, Lindsey; Rogan, Jack F; Dinan, Adam; Firth, Andrew E; Andrews, Byron; Whitworth, Alexander J; Schwartz, Schraga; Warren, Alan J; Minczuk, Michal
From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases
2022 Garone C.; Pietra A.; Nesci S.
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy
2021 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.
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
2021 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.
The Transcriptome of SH-SY5Y at Single-Cell Resolution: A CITE-Seq Data Analysis Workflow
2021 Mercatelli D.; Balboni N.; De Giorgio F.; Aleo E.; Garone C.; Giorgi F.M.
mtDNA maintenance: Disease and therapy
2020 Quadalti C.; Garone C.
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
2020 Protasoni, M.; Bruno, C.; Donati, M. A.; Mohamoud, K.; Severino, M.; Allegri, A.; Robinson, A. J.; Reyes, A.; Zeviani, M.; Garone, C.
Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
2019 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.
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs
2019 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
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia
2018 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.
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
2018 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.
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far
2018 Pacitti, Dario; Levene, Michelle; Garone, Caterina; Nirmalananthan, Niranjanan; Bax, Bridget E
Retrospective natural history of thymidine kinase 2 deficiency
2018 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.
Towards a therapy for mitochondrial disease: An update
2018 Garone C.; Viscomi C.
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder
2017 Garone C.; Gurgel-Giannetti J.; Sanna-Cherchi S.; Krishna S.; Naini A.; Quinzii C.M.; Hirano M.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
2017 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.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction | Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Gr...ippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina | 2024-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | 420 COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.pdf; 41431_2024_1615_MOESM3_ESM.docx; 41431_2024_1615_MOESM2_ESM.docx |
| Deoxyguanosine kinase deficiency: natural history and liver transplant outcome | Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.;... Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C. | 2024-01-01 | BRAIN COMMUNICATIONS | - | 1.01 Articolo in rivista | dGK_Manzonietal.pdf; fcae160_supplementary_data.zip |
| Mitochondrial metabolism in neural stem cells and implications for neurodevelopmental and neurodegenerative diseases | Garone, C; De Giorgio, F; Carli, S | 2024-01-01 | JOURNAL OF TRANSLATIONAL MEDICINE | - | 1.01 Articolo in rivista | Garone_et_al-2024-Journal_of_Translational_Medicine.pdf; 12967_2024_5041_MOESM1_ESM.docx |
| Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder | Pietra, Andrea; Palombo, Flavia; Giannotta, Melania; Maffei, Monica; Fiorini, Claudio; Costa, Rob...erta; Cenacchi, Giovanna; Carelli, Valerio; Cordelli, Duccio Maria; Pini, Antonella; Garone, Caterina | 2023-01-01 | NEUROLOGY. GENETICS | - | 1.01 Articolo in rivista | Pietra_2023.pdf |
| A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit | Rebelo-Guiomar, Pedro; Pellegrino, Simone; Dent, Kyle C; Sas-Chen, Aldema; Miller-Fleming, Leonor...; Garone, Caterina; Van Haute, Lindsey; Rogan, Jack F; Dinan, Adam; Firth, Andrew E; Andrews, Byron; Whitworth, Alexander J; Schwartz, Schraga; Warren, Alan J; Minczuk, Michal | 2022-01-01 | NATURE COMMUNICATIONS | - | 1.01 Articolo in rivista | 222.zip; 41467_2022_Article_28503-pedro_reduced_compressed.pdf |
| From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases | Garone C.; Pietra A.; Nesci S. | 2022-01-01 | LIFE | - | 1.01 Articolo in rivista | From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.pdf |
| Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy | Boschetti E.; D'Angelo R.; Tardio M.L.; Costa R.; Giordano C.; Accarino A.; Malagelada C.; Claven...zani 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. | 2021-01-01 | AMERICAN JOURNAL OF PHYSIOLOGY: GASTROINTESTINAL AND LIVER PHYSIOLOGY | - | 1.01 Articolo in rivista | ajp Evidence of enteric angiopathy 2021_righi.pdf |
| SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy | Mancuso M.; La Morgia C.; Valentino M.L.; Ardissone A.; Lamperti C.; Procopio E.; Garone C.; Sici...liano G.; Musumeci O.; Toscano A.; Primiano G.; Servidei S.; Carelli V. | 2021-01-01 | MITOCHONDRION | - | 1.01 Articolo in rivista | - |
| The Transcriptome of SH-SY5Y at Single-Cell Resolution: A CITE-Seq Data Analysis Workflow | Mercatelli D.; Balboni N.; De Giorgio F.; Aleo E.; Garone C.; Giorgi F.M. | 2021-01-01 | METHODS AND PROTOCOLS | - | 1.01 Articolo in rivista | mps-04-00028-v2.pdf; Supplementary Material.zip |
| mtDNA maintenance: Disease and therapy | Quadalti C.; Garone C. | 2020-01-01 | - | Giuseppe Gasparre, Anna Maria Porcelli | 2.01 Capitolo / saggio in libro | - |
| Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement | Protasoni, M.; Bruno, C.; Donati, M. A.; Mohamoud, K.; Severino, M.; Allegri, A.; Robinson, A. J....; Reyes, A.; Zeviani, M.; Garone, C. | 2020-01-01 | MOLECULAR GENETICS AND METABOLISM | - | 1.01 Articolo in rivista | garone.pdf |
| Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy | Dominguez-Gonzalez C.; Madruga-Garrido M.; Mavillard F.; Garone C.; Aguirre-Rodriguez F.J.; Donat...i 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. | 2019-01-01 | ANNALS OF NEUROLOGY | - | 1.01 Articolo in rivista | nihms-1635391.pdf |
| NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs | Lindsey Van Haute, Song-Yi Lee, Beverly J. McCann, Christopher A. Powell, Dhiru Bansal, Lina Vasi...liauskaitė, Caterina Garone, Sanghee Shin, Jong-Seo Kim, Michaela Frye, Joseph G. Gleeson, Eric A. Miska, Hyun-Woo Rhee, Michal Minczuk | 2019-01-01 | NUCLEIC ACIDS RESEARCH | - | 1.01 Articolo in rivista | NSUN2 introduces 5-methylcytosines in mammalian.pdf; gkz559_supplemental_file.pdf |
| FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia | Manoli, I.; Sysol, J. R.; Epping, M. W.; Li, L.; Wang, C.; Sloan, J. L.; Pass, A.; Gagne, J.; Kte...na, 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. | 2018-01-01 | JCI INSIGHT | - | 1.01 Articolo in rivista | - |
| Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family | 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. | 2018-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far | Pacitti, Dario; Levene, Michelle; Garone, Caterina; Nirmalananthan, Niranjanan; Bax, Bridget E | 2018-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | - |
| Retrospective natural history of thymidine kinase 2 deficiency | Garone, C.; Taylor, R. W.; Nascimento, A.; Poulton, J.; Fratter, C.; Dominguez-Gonzalez, C.; Evan...s, 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. | 2018-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
| Towards a therapy for mitochondrial disease: An update | Garone C.; Viscomi C. | 2018-01-01 | BIOCHEMICAL SOCIETY TRANSACTIONS | - | 1.01 Articolo in rivista | - |
| A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder | Garone C.; Gurgel-Giannetti J.; Sanna-Cherchi S.; Krishna S.; Naini A.; Quinzii C.M.; Hirano M. | 2017-01-01 | JOURNAL OF CHILD NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | 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. | 2017-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |