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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, Whitworth AJ, Zeviani M. Benincá C, et al. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439808 Free PMC article.
Selective Disruption of Mitochondrial Thiol Redox State in Cells and In Vivo.
Booty LM, Gawel JM, Cvetko F, Caldwell ST, Hall AR, Mulvey JF, James AM, Hinchy EC, Prime TA, Arndt S, Beninca C, Bright TP, Clatworthy MR, Ferdinand JR, Prag HA, Logan A, Prudent J, Krieg T, Hartley RC, Murphy MP. Booty LM, et al. Among authors: beninca c. Cell Chem Biol. 2019 Mar 21;26(3):449-461.e8. doi: 10.1016/j.chembiol.2018.12.002. Epub 2019 Jan 31. Cell Chem Biol. 2019. PMID: 30713096 Free PMC article.
Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy.
Dogan SA, Cerutti R, Benincá C, Brea-Calvo G, Jacobs HT, Zeviani M, Szibor M, Viscomi C. Dogan SA, et al. Among authors: beninca c. Cell Metab. 2018 Nov 6;28(5):764-775.e5. doi: 10.1016/j.cmet.2018.07.012. Epub 2018 Aug 16. Cell Metab. 2018. PMID: 30122554 Free PMC article.
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
Signes A, Cerutti R, Dickson AS, Benincá C, Hinchy EC, Ghezzi D, Carrozzo R, Bertini E, Murphy MP, Nathan JA, Viscomi C, Fernandez-Vizarra E, Zeviani M. Signes A, et al. Among authors: beninca c. EMBO Mol Med. 2019 Jan;11(1):e9582. doi: 10.15252/emmm.201809582. EMBO Mol Med. 2019. PMID: 30552096 Free PMC article.
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V, Valle DD, Telles BA, Robinson AJ, Monteiro V, Santos MLSF, Souza RLR, Benincá C. Zanette V, et al. Among authors: beninca c. Genet Mol Biol. 2021 Nov 19;44(4):e20210149. doi: 10.1590/1678-4685-GMB-2021-0149. eCollection 2021. Genet Mol Biol. 2021. PMID: 34807224 Free PMC article.
27 results