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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.
CEDAR, an online resource for the reporting and exploration of complexome profiling data.
van Strien J, Haupt A, Schulte U, Braun HP, Cabrera-Orefice A, Choudhary JS, Evers F, Fernandez-Vizarra E, Guerrero-Castillo S, Kooij TWA, Páleníková P, Pardo M, Ugalde C, Wittig I, Wöhlbrand L, Brandt U, Arnold S, Huynen MA. van Strien J, et al. Biochim Biophys Acta Bioenerg. 2021 Jul 1;1862(7):148411. doi: 10.1016/j.bbabio.2021.148411. Epub 2021 Mar 17. Biochim Biophys Acta Bioenerg. 2021. PMID: 33722514 Free article.
How should we talk about metabolism?
Murphy MP, O'Neill LAJ. Murphy MP, et al. Nat Immunol. 2020 Jul;21(7):713-715. doi: 10.1038/s41590-020-0691-8. Nat Immunol. 2020. PMID: 32409776 No abstract available.
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Di Nottia M, Marchese M, Verrigni D, Mutti CD, Torraco A, Oliva R, Fernandez-Vizarra E, Morani F, Trani G, Rizza T, Ghezzi D, Ardissone A, Nesti C, Vasco G, Zeviani M, Minczuk M, Bertini E, Santorelli FM, Carrozzo R. Di Nottia M, et al. Neurobiol Dis. 2020 Jul;141:104880. doi: 10.1016/j.nbd.2020.104880. Epub 2020 Apr 25. Neurobiol Dis. 2020. PMID: 32344152 Free article.
Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia.
Szibor M, Schreckenberg R, Gizatullina Z, Dufour E, Wiesnet M, Dhandapani PK, Debska-Vielhaber G, Heidler J, Wittig I, Nyman TA, Gärtner U, Hall AR, Pell V, Viscomi C, Krieg T, Murphy MP, Braun T, Gellerich FN, Schlüter KD, Jacobs HT. Szibor M, et al. J Cell Mol Med. 2020 Mar;24(6):3534-3548. doi: 10.1111/jcmm.15043. Epub 2020 Feb 10. J Cell Mol Med. 2020. PMID: 32040259 Free PMC article.
Bioenergetic consequences from xenotopic expression of a tunicate AOX in mouse mitochondria: Switch from RET and ROS to FET.
Szibor M, Gainutdinov T, Fernandez-Vizarra E, Dufour E, Gizatullina Z, Debska-Vielhaber G, Heidler J, Wittig I, Viscomi C, Gellerich F, Moore AL. Szibor M, et al. Biochim Biophys Acta Bioenerg. 2020 Feb 1;1861(2):148137. doi: 10.1016/j.bbabio.2019.148137. Epub 2019 Dec 9. Biochim Biophys Acta Bioenerg. 2020. PMID: 31825809 Free article.