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2019 4
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Page 1
Mitochondrial disorders of the OXPHOS system.
Fernandez-Vizarra E, Zeviani M. Fernandez-Vizarra E, et al. FEBS Lett. 2021 Apr;595(8):1062-1106. doi: 10.1002/1873-3468.13995. Epub 2020 Dec 18. FEBS Lett. 2021. PMID: 33159691 Free article. Review.
Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids.
Pérez MJ, Ivanyuk D, Panagiotakopoulou V, Di Napoli G, Kalb S, Brunetti D, Al-Shaana R, Kaeser SA, Fraschka SA, Jucker M, Zeviani M, Viscomi C, Deleidi M. Pérez MJ, et al. Mol Psychiatry. 2021 Oct;26(10):5733-5750. doi: 10.1038/s41380-020-0807-4. Epub 2020 Jul 7. Mol Psychiatry. 2021. PMID: 32632204 Free PMC article.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
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. Caporali L, et al. Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21. Ann Neurol. 2020. PMID: 32219868 Free PMC article.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Neurol Genet. 2020 Jan 7;6(1):e381. doi: 10.1212/NXG.0000000000000381. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042910 Free PMC article.
Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress Induction.
Costa R, Peruzzo R, Bachmann M, Montà GD, Vicario M, Santinon G, Mattarei A, Moro E, Quintana-Cabrera R, Scorrano L, Zeviani M, Vallese F, Zoratti M, Paradisi C, Argenton F, Brini M, Calì T, Dupont S, Szabò I, Leanza L. Costa R, et al. Cell Rep. 2019 Aug 20;28(8):1949-1960.e6. doi: 10.1016/j.celrep.2019.07.050. Cell Rep. 2019. PMID: 31433973 Free article.
miR-181a/b downregulation exerts a protective action on mitochondrial disease models.
Indrieri A, Carrella S, Romano A, Spaziano A, Marrocco E, Fernandez-Vizarra E, Barbato S, Pizzo M, Ezhova Y, Golia FM, Ciampi L, Tammaro R, Henao-Mejia J, Williams A, Flavell RA, De Leonibus E, Zeviani M, Surace EM, Banfi S, Franco B. Indrieri A, et al. EMBO Mol Med. 2019 May;11(5):e8734. doi: 10.15252/emmm.201708734. EMBO Mol Med. 2019. PMID: 30979712 Free PMC article.