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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. Amati-Bonneau P, et al. Among authors: rugolo m. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub 2007 Dec 24. Brain. 2008. PMID: 18158317 Free article.
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B. Carelli V, et al. Among authors: rugolo m. Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349918
'Behr syndrome' with OPA1 compound heterozygote mutations.
Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E. Carelli V, et al. Among authors: rugolo m. Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. Brain. 2015. PMID: 25146916 Free PMC article. No abstract available.
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
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. Carelli V, et al. Among authors: rugolo m. Ann Neurol. 2015 Jul;78(1):21-38. doi: 10.1002/ana.24410. Epub 2015 Jun 10. Ann Neurol. 2015. PMID: 25820230 Free PMC article.
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.
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. Del Dotto V, et al. Among authors: rugolo m. Cell Rep. 2017 Jun 20;19(12):2557-2571. doi: 10.1016/j.celrep.2017.05.073. Cell Rep. 2017. PMID: 28636943 Free article.
OPA1: How much do we know to approach therapy?
Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C. Del Dotto V, et al. Among authors: rugolo m. Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Pharmacol Res. 2018. PMID: 29454676 Review.
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.
La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V. La Morgia C, et al. Among authors: rugolo m. Neurology. 2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0. Epub 2008 Jan 23. Neurology. 2008. PMID: 18216301
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
Elachouri G, Vidoni S, Zanna C, Pattyn A, Boukhaddaoui H, Gaget K, Yu-Wai-Man P, Gasparre G, Sarzi E, Delettre C, Olichon A, Loiseau D, Reynier P, Chinnery PF, Rotig A, Carelli V, Hamel CP, Rugolo M, Lenaers G. Elachouri G, et al. Among authors: rugolo m. Genome Res. 2011 Jan;21(1):12-20. doi: 10.1101/gr.108696.110. Epub 2010 Oct 25. Genome Res. 2011. PMID: 20974897 Free PMC article.
100 results