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The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way.
J Cell Physiol. 2019 Nov;234(11):19511-19522. doi: 10.1002/jcp.28549. Epub 2019 Apr 4.
J Cell Physiol. 2019.
PMID: 30950033
Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons.
Galera-Monge T, Zurita-Díaz F, Canals I, Hansen MG, Rufián-Vázquez L, Ehinger JK, Elmér E, Martin MA, Garesse R, Ahlenius H, Gallardo ME.
Galera-Monge T, et al.
Int J Mol Sci. 2020 Apr 30;21(9):3191. doi: 10.3390/ijms21093191.
Int J Mol Sci. 2020.
PMID: 32366037
Free PMC article.
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Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.
Galera-Monge T, Zurita-Díaz F, González-Páramos C, Moreno-Izquierdo A, Fraga MF, Fernández AF, Garesse R, Gallardo ME.
Galera-Monge T, et al.
Stem Cell Res. 2016 May;16(3):766-9. doi: 10.1016/j.scr.2016.04.012. Epub 2016 Apr 18.
Stem Cell Res. 2016.
PMID: 27346203
Free article.
No abstract available.
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Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.
Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Fraga MF, Ayuso C, Fernández AF, Garesse R, Gallardo ME.
Zurita-Díaz F, et al. Among authors: galera monge t.
Stem Cell Res. 2016 Jan;16(1):124-7. doi: 10.1016/j.scr.2015.12.019. Epub 2015 Dec 29.
Stem Cell Res. 2016.
PMID: 27345796
Free article.
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Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.
Galera-Monge T, Zurita-Díaz F, Moreno-Izquierdo A, Fraga MF, Fernández AF, Ayuso C, Garesse R, Gallardo ME.
Galera-Monge T, et al.
Stem Cell Res. 2016 May;16(3):673-6. doi: 10.1016/j.scr.2016.03.011. Epub 2016 Apr 13.
Stem Cell Res. 2016.
PMID: 27346197
Free article.
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Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.
Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Corton M, Ayuso C, Garesse R, Gallardo ME.
Zurita-Díaz F, et al. Among authors: galera monge t.
Stem Cell Res. 2017 Oct;24:81-84. doi: 10.1016/j.scr.2017.08.017. Epub 2017 Aug 19.
Stem Cell Res. 2017.
PMID: 29034899
Free article.
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