Aproximaciones terapéuticas en las ER en estudio

Román-Rodríguez FJ, Ugalde L, Álvarez L, Díez B, Ramírez MJ, Risueño C, Cortón M, Bogliolo M, Bernal S, March F, Ayuso C, Hanenberg H, Sevilla J, Rodríguez-Perales S, Torres-Ruiz R, Surrallés J, Bueren JA, Río P. NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia. Cell Stem Cell. 2019 Nov 7;25(5):607-621.e7. doi: 10.1016/j.stem.2019.08.016. Epub 2019 Sep 19. PMID: 31543367.

Cerrada V, García-López M, Moreno-Izquierdo A, Villaverde C, Zurita O, Martin-Merida MI, Arenas J, Ayuso C, Gallardo ME. Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys. Stem Cell Res. 2019 Oct;40:101566. doi: 10.1016/j.scr.2019.101566. Epub 2019 Aug 29. PMID: 31509793.

Lukovic D, Artero Castro A, Kaya KD, Munezero D, Gieser L, Davó-Martínez C, Corton M, Cuenca N, Swaroop A, Ramamurthy V, Ayuso C, Erceg S. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. Sci Rep. 2020 Mar 25;10(1):5426. doi: 10.1038/s41598-020-62047-2. PMID: 32214115; PMCID: PMC7096529.

Zurita-Díaz F, Ortuño-Costela MDC, Moreno-Izquierdo A, Galbis L, Millán JM, Ayuso C, Garesse R, Gallardo ME. Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene. Stem Cell Res. 2018 Aug;31:152-156. doi: 10.1016/j.scr.2018.08.002. Epub 2018 Aug 2. PMID: 30096711.

Bolinches-Amorós A, Lukovic D, Castro AA, León M, Kamenarova K, Kaneva R, Jendelova P, Blanco-Kelly F, Ayuso C, Cortón M, Erceg S. Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene. Stem Cell Res. 2018 Apr;28:96-99. doi: 10.1016/j.scr.2018.01.004. Epub 2018 Jan 4. PMID: 29453128.

Artero Castro A, Long K, Bassett A, Machuca C, León M, Ávila-Fernandez A, Cortón M, Vidal-Puig T, Ayuso C, Lukovic D, Erceg S. Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK. Stem Cell Res. 2019 Jan;34:101341. doi: 10.1016/j.scr.2018.11.003. Epub 2018 Nov 16. PMID: 30612079.

Artero-Castro A, Long K, Bassett A, Ávila-Fernandez A, Cortón M, Vidal-Puig A, Jendelova P, Rodriguez-Jimenez FJ, Clemente E, Ayuso C, Slaven E. Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells. Int J Mol Sci. 2021 Feb 20;22(4):2092. doi: 10.3390/ijms22042092. PMID: 33672445; PMCID: PMC7923278.

Lukovic D, Artero Castro A, León M, Del Buey Furió V, Cortón M, Ayuso C, Erceg S. Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1. Stem Cell Res. 2018 Dec;33:151-155. doi: 10.1016/j.scr.2018.10.012. Epub 2018 Oct 5. PMID: 30366342.

Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Ensayos clínicos en enfermedades raras financiados por los participantes [Participant-funded clinical trials on rare diseases]. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. Spanish. doi: 10.1016/j.anpedi.2020.03.019. Epub 2020 Jun 1. PMID: 32499195.

Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Participant-funded clinical trials on rare diseases. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpede.2020.03.005. Epub 2020 Oct 10. PMID: 34092344.

Dal-Re R, Ayuso C. Facilitar el acceso a toda la informacion debe ser una obligacion para las revistas medicas [Easing access to all information should be mandatory to medical journals]. Rev Neurol. 2018 Feb 16;66(4):135. Spanish. PMID: 29435970.

Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Pathogenic variants of DNAJC12 and evaluation of the encoded co-chaperone as a genetic modifier of hyperphenylalaninemia. Human Mutation, 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. PMID: 32333439.

Vilas A, Yuste-Checa P, Gallego D, Desviat LR, Ugarte M, Pérez-Cerda C, Gámez A, Pérez B. Proteostasis regulators as potential rescuers of PMM2 activity. Biochim Biophys Acta Mol Basis, 2020 Jul 1;1866(7):165777. doi: 10.1016/j.bbadis.2020.165777. PMID: 32222543.

New and potential strategies for the treatment of PMM2-CDG. Gámez A, Serrano M, Gallego D, Vilasa A, Pérez B. Biochim Biophys Acta Gen Subj. 2020. PMID: 32712172.

Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. PMID: 31125140.

Hernandez-Voth A, Sayas Catalan J, Corral Blanco M, Castaño Mendez A, Martin MA, De Fuenmayor Fernandez de la Hoz C, Villena Garrido V, Dominguez-Gonzalez C. Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy. BMJ Open Respir Res. 2020 Nov;7(1):e000774. doi: 10.1136/bmjresp-2020-000774. PMID: 33246973; PMCID: PMC7703425.

Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MA, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y. Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. PMID: 30848931.