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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Among authors: mora lorca ja. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.
Glutathione reductase gsr-1 is an essential gene required for Caenorhabditis elegans early embryonic development.
Mora-Lorca JA, Sáenz-Narciso B, Gaffney CJ, Naranjo-Galindo FJ, Pedrajas JR, Guerrero-Gómez D, Dobrzynska A, Askjaer P, Szewczyk NJ, Cabello J, Miranda-Vizuete A. Mora-Lorca JA, et al. Free Radic Biol Med. 2016 Jul;96:446-61. doi: 10.1016/j.freeradbiomed.2016.04.017. Epub 2016 Apr 24. Free Radic Biol Med. 2016. PMID: 27117030 Free PMC article.
Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation.
Guerrero-Gómez D, Mora-Lorca JA, Sáenz-Narciso B, Naranjo-Galindo FJ, Muñoz-Lobato F, Parrado-Fernández C, Goikolea J, Cedazo-Minguez Á, Link CD, Neri C, Sequedo MD, Vázquez-Manrique RP, Fernández-Suárez E, Goder V, Pané R, Cabiscol E, Askjaer P, Cabello J, Miranda-Vizuete A. Guerrero-Gómez D, et al. Among authors: mora lorca ja. Cell Death Differ. 2019 Sep;26(9):1545-1565. doi: 10.1038/s41418-018-0270-9. Epub 2019 Feb 15. Cell Death Differ. 2019. PMID: 30770874 Free PMC article.