Peralta S - Search Results

1

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: peralta s. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.

2

Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.

Peralta S, Torraco A, Wenz T, Garcia S, Diaz F, Moraes CT. Peralta S, et al. Hum Mol Genet. 2014 Mar 15;23(6):1399-412. doi: 10.1093/hmg/ddt526. Epub 2013 Oct 23. Hum Mol Genet. 2014. PMID: 24154540 Free PMC article.

3

MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.

Hashimoto M, Bacman SR, Peralta S, Falk MJ, Chomyn A, Chan DC, Williams SL, Moraes CT. Hashimoto M, et al. Among authors: peralta s. Mol Ther. 2015 Oct;23(10):1592-9. doi: 10.1038/mt.2015.126. Epub 2015 Jul 10. Mol Ther. 2015. PMID: 26159306 Free PMC article.

4

Sustained AMPK activation improves muscle function in a mitochondrial myopathy mouse model by promoting muscle fiber regeneration.

Peralta S, Garcia S, Yin HY, Arguello T, Diaz F, Moraes CT. Peralta S, et al. Hum Mol Genet. 2016 Aug 1;25(15):3178-3191. doi: 10.1093/hmg/ddw167. Epub 2016 Jun 10. Hum Mol Genet. 2016. PMID: 27288451 Free PMC article.

5

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.

Peralta S, González-Quintana A, Ybarra M, Delmiro A, Pérez-Pérez R, Docampo J, Arenas J, Blázquez A, Ugalde C, Martín MA. Peralta S, et al. Mol Genet Metab. 2019 Dec;128(4):452-462. doi: 10.1016/j.ymgme.2019.10.012. Epub 2019 Nov 6. Mol Genet Metab. 2019. PMID: 31727539

6

Ablation of Cytochrome c in Adult Forebrain Neurons Impairs Oxidative Phosphorylation Without Detectable Apoptosis.

Pinto M, Vempati UD, Diaz F, Peralta S, Moraes CT. Pinto M, et al. Among authors: peralta s. Mol Neurobiol. 2019 May;56(5):3722-3735. doi: 10.1007/s12035-018-1335-y. Epub 2018 Sep 6. Mol Neurobiol. 2019. PMID: 30191381 Free PMC article.

7

Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.

Peralta S, Pinto M, Arguello T, Garcia S, Diaz F, Moraes CT. Peralta S, et al. JCI Insight. 2020 Nov 5;5(21):e141183. doi: 10.1172/jci.insight.141183. JCI Insight. 2020. PMID: 33148885 Free PMC article.

8

Mitochondrial transcription: lessons from mouse models.

Peralta S, Wang X, Moraes CT. Peralta S, et al. Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):961-9. doi: 10.1016/j.bbagrm.2011.11.001. Epub 2011 Nov 18. Biochim Biophys Acta. 2012. PMID: 22120174 Free PMC article. Review.

9

Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.

Iommarini L, Peralta S, Torraco A, Diaz F. Iommarini L, et al. Among authors: peralta s. Mitochondrion. 2015 May;22:96-118. doi: 10.1016/j.mito.2015.01.008. Epub 2015 Jan 29. Mitochondrion. 2015. PMID: 25640959 Free PMC article. Review.

10

Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.

Torraco A, Peralta S, Iommarini L, Diaz F. Torraco A, et al. Among authors: peralta s. Mitochondrion. 2015 Mar;21:76-91. doi: 10.1016/j.mito.2015.01.009. Epub 2015 Feb 4. Mitochondrion. 2015. PMID: 25660179 Free PMC article. Review.

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