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Le pubblicazioni del Programma di Neurogenetica

Pubblicato il 01/12/2020

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Journal of Clinical Investigation. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. PMID: 31550240; PMCID: PMC6934201.

Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Annals of Neurology. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21. PMID: 32219868; PMCID: PMC7383914.

Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group [...Valerio Carelli, Chiara La Morgia, Martina Romagnoli, ...].
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.
The New England Journal of Medicine. 2020 Apr 30;382(18):1687-1695. doi: 10.1056/NEJMoa1917130. Epub 2020 Apr 14. PMID: 32286748.

Zaninello M, Palikaras K, Naon D, Iwata K, Herkenne S, Quintana-Cabrera R, Semenzato M, Grespi F, Ross-Cisneros FN, Carelli V, Sadun AA, Tavernarakis N, Scorrano L.
Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy.
Nature Communications. 2020 Aug 12;11(1):4029. doi: 10.1038/s41467-020-17821-1. PMID: 32788597; PMCID: PMC7423926.

Chen Q, Kirk K, Shurubor YI, Zhao D, Arreguin AJ, Shahi I, Valsecchi F, Primiano G, Calder EL, Carelli V, Denton TT, Beal MF, Gross SS, Manfredi G, D'Aurelio M.
Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations.
Cell Metabolism. 2018 May 1;27(5):1007-1025.e5. doi: 10.1016/j.cmet.2018.03.002. Epub 2018 Apr 12. PMID: 29657030; PMCID: PMC5932217.

Del Dotto V, Mishra P, Vidoni S, Fogazza M, Maresca A, Caporali L, McCaffery JM, Cappelletti M, Baruffini E, Lenaers G, Chan D, Rugolo M, Carelli V, Zanna C.
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.
Cell Reports. 2017 Jun 20;19(12):2557-2571. doi: 10.1016/j.celrep.2017.05.073. PMID: 28636943.

La Morgia C, Ross-Cisneros FN, Koronyo Y, Hannibal J, Gallassi R, Cantalupo G, Sambati L, Pan BX, Tozer KR, Barboni P, Provini F, Avanzini P, Carbonelli M, Pelosi A, Chui H, Liguori R, Baruzzi A, Koronyo-Hamaoui M, Sadun AA, Carelli V.
Melanopsin retinal ganglion cell loss in Alzheimer disease.
Annals of Neurology. 2016 Jan;79(1):90-109. doi: 10.1002/ana.24548. Epub 2015 Dec 18. PMID: 26505992; PMCID: PMC4737313.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Nature Genetics. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. PMID: 26168012; PMCID: PMC4520737.

Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A, Zeviani M.
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
Annals of Neurology. 2015 Jul;78(1):21-38. doi: 10.1002/ana.24410. Epub 2015 Jun 10. PMID: 25820230; PMCID: PMC5008165.