María Victoria
Cascajo Almenara
Ikertzailea 2006-2013 tartean
María Victoria Cascajo Almenara-rekin lankidetzan egindako argitalpenak (17)
2024
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Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses
Frontiers in Cellular Neuroscience, Vol. 18
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2023
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The mitochondrial phosphatase PPTC7, ¿a biomarker of coenzyme Q10 deficiency or a therapeutic target?
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 12
2021
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Cellular models for primary coq deficiency pathogenesis study
International Journal of Molecular Sciences, Vol. 22, Núm. 19
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Functional validation of CoQ deficiency fibroblast model with COQ7 mutations
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 10
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Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging
BioFactors, Vol. 47, Núm. 4, pp. 551-569
2020
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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency
Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467
2019
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ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
2017
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Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency
Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703
2016
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RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7
RNA Biology, Vol. 13, Núm. 7, pp. 622-634
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
2014
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Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
BMC Pediatrics, Vol. 14, Núm. 1
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Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2
Antioxidants and Redox Signaling, Vol. 21, Núm. 12, pp. 1708-1725
2013
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Regulación post-transcripcional de la biosíntesis de CoQ10: implicación de las proteínas de unión a ARNm sobre la expresión de COQ7
Regulación post-transcripcional de la biosíntesis de CoQ10: implicación de las proteínas de unión a ARNm sobre la expresión de COQ7
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Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: A modelling study for human coenzyme Q10 deficiencies
BMJ Open, Vol. 3, Núm. 3
2008
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Nrf2 mediates cancer protection but not prolongevity induced by caloric restriction
Proceedings of the National Academy of Sciences of the United States of America, Vol. 105, Núm. 7, pp. 2325-2330
2006
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Calorie restriction induces mitochondrial biogenesis and bioenergetic efficiency
Proceedings of the National Academy of Sciences of the United States of America, Vol. 103, Núm. 6, pp. 1768-1773