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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
Genin EC, Plutino M, Bannwarth S, Villa E, Cisneros-Barroso E, Roy M, Ortega-Vila B, Fragaki K, Lespinasse F, Pinero-Martos E, Augé G, Moore D, Burté F, Lacas-Gervais S, Kageyama Y, Itoh K, Yu-Wai-Man P, Sesaki H, Ricci JE, Vives-Bauza C, Paquis-Flucklinger V. Genin EC, et al. 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. 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.
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. 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.
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: vives bauza c. Front Genet. 2021 Apr 7;12:622886. doi: 10.3389/fgene.2021.622886. eCollection 2021. Front Genet. 2021. PMID: 33897758 Free PMC article.
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: vives bauza c. Sci Rep. 2021 Jul 15;11(1):14529. doi: 10.1038/s41598-021-93555-4. Sci Rep. 2021. PMID: 34267256 Free PMC article.
PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.
Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt-Steinhauer E, Díaz-Navarro RM, Tur S, Jiménez C, Medina-Dols A, Cullell N, Torres-Aguila NP, Muiño E, Rodríguez-Campello A, Ois A, Cuadrado-Godia E, Vivanco-Hidalgo RM, Hernandez-Guillamon M, Solé M, Delgado P, Bustamante A, García-Berrocoso T, Mendióroz M, Castellanos M, Serena J, Martí-Fàbregas J, Segura T, Serrano-Heras G, Obach V, Ribó M, Molina CA, Alvarez-Sabín J, Palomeras E, Freijo M, Font MA, Rosand J, Rost NS, Gallego-Fabrega C, Lee JM, Heitsch L, Ibanez L, Cruchaga C, Phuah CL, Lemmens R, Thijs V, Lindgren A, Maguire J, Rannikmae K, Sudlow CL, Jern C, Stanne TM, Lorentzen E, Muñoz-Narbona L, Dávalos A, López-Cancio E, Worrall BB, Woo D, Kittner SJ, Mitchell BD, Montaner J, Roquer J, Krupinski J, Estivill X, Rabionet R, Vives-Bauzá C, Fernández-Cadenas I, Jiménez-Conde J. Mola-Caminal M, et al. Circ Res. 2019 Jan 4;124(1):114-120. doi: 10.1161/CIRCRESAHA.118.313533. Circ Res. 2019. PMID: 30582445 Free PMC article.
48 results