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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
EMBO Mol Med. 2016 Jan 1;8(1):58-72. doi: 10.15252/emmm.201505496.
EMBO Mol Med. 2016.
PMID: 26666268
Free PMC article.
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Genin EC, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, Villa E, Lacas-Gervais S, Jokela M, Auranen M, Ylikallio E, Mauri-Crouzet A, Tyynismaa H, Vihola A, Augé G, Cochaud C, Sesaki H, Ricci JE, Udd B, Vives-Bauza C, Paquis-Flucklinger V.
Genin EC, et al. Among authors: ortega vila b.
Neurobiol Dis. 2018 Nov;119:159-171. doi: 10.1016/j.nbd.2018.07.027. Epub 2018 Aug 6.
Neurobiol Dis. 2018.
PMID: 30092269
Free PMC article.
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Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation.
Piñero-Martos E, Ortega-Vila B, Pol-Fuster J, Cisneros-Barroso E, Ruiz-Guerra L, Medina-Dols A, Heine-Suñer D, Lladó J, Olmos G, Vives-Bauzà C.
Piñero-Martos E, et al. Among authors: ortega vila b.
Hum Mol Genet. 2016 Oct 1;25(19):4157-4169. doi: 10.1093/hmg/ddw250. Epub 2016 Jul 27.
Hum Mol Genet. 2016.
PMID: 27466199
Free PMC article.
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The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.
Pol-Fuster J, Cañellas F, Ruiz-Guerra L, Medina-Dols A, Bisbal-Carrió B, Ortega-Vila B, Llinàs J, Hernandez-Rodriguez J, Lladó J, Olmos G, Strauch K, Heine-Suñer D, Vives-Bauzà C, Flaquer A.
Pol-Fuster J, et al. Among authors: ortega vila b.
Sci Rep. 2021 Jul 15;11(1):14529. doi: 10.1038/s41598-021-93555-4.
Sci Rep. 2021.
PMID: 34267256
Free PMC article.
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Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes.
Pol-Fuster J, Cañellas F, Ruiz-Guerra L, Medina-Dols A, Bisbal-Carrió B, Asensio V, Ortega-Vila B, Marzese D, Vidal C, Santos C, Lladó J, Olmos G, Heine-Suñer D, Strauch K, Flaquer A, Vives-Bauzà C.
Pol-Fuster J, et al. Among authors: ortega vila b.
Front Genet. 2021 Apr 7;12:622886. doi: 10.3389/fgene.2021.622886. eCollection 2021.
Front Genet. 2021.
PMID: 33897758
Free PMC article.
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