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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Yap ZY, et al. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. Am J Hum Genet. 2021. PMID: 34800363 Free PMC article.
Neural stem cells traffic functional mitochondria via extracellular vesicles.
Peruzzotti-Jametti L, Bernstock JD, Willis CM, Manferrari G, Rogall R, Fernandez-Vizarra E, Williamson JC, Braga A, van den Bosch A, Leonardi T, Krzak G, Kittel Á, Benincá C, Vicario N, Tan S, Bastos C, Bicci I, Iraci N, Smith JA, Peacock B, Muller KH, Lehner PJ, Buzas EI, Faria N, Zeviani M, Frezza C, Brisson A, Matheson NJ, Viscomi C, Pluchino S. Peruzzotti-Jametti L, et al. PLoS Biol. 2021 Apr 7;19(4):e3001166. doi: 10.1371/journal.pbio.3001166. eCollection 2021 Apr. PLoS Biol. 2021. PMID: 33826607 Free PMC article.
SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cells.
Fernández-Vizarra E, López-Calcerrada S, Formosa LE, Pérez-Pérez R, Ding S, Fearnley IM, Arenas J, Martín MA, Zeviani M, Ryan MT, Ugalde C. Fernández-Vizarra E, et al. Biochim Biophys Acta Bioenerg. 2021 Jul 1;1862(7):148414. doi: 10.1016/j.bbabio.2021.148414. Epub 2021 Mar 13. Biochim Biophys Acta Bioenerg. 2021. PMID: 33727070 Free article.
Cytochrome c oxidase deficiency.
Brischigliaro M, Zeviani M. Brischigliaro M, et al. Biochim Biophys Acta Bioenerg. 2021 Jan 1;1862(1):148335. doi: 10.1016/j.bbabio.2020.148335. Epub 2020 Nov 7. Biochim Biophys Acta Bioenerg. 2021. PMID: 33171185 Free article. Review.
26 results