Publikationen, an denen er mitarbeitet Ana María Sánchez Cuesta (7)
2024
-
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434
-
New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2021
-
Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging
BioFactors, Vol. 47, Núm. 4, pp. 551-569
2020
-
Design of High-Throughput Screening of Natural Extracts to Identify Molecules Bypassing Primary Coenzyme Q Deficiency in Saccharomyces cerevisiae
SLAS Discovery, Vol. 25, Núm. 3, pp. 299-309
2019
-
ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
-
Inadequate control of thyroid hormones sensitizes to hepatocarcinogenesis and unhealthy aging
Aging, Vol. 11, Núm. 18, pp. 7746-7779
2018
-
The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis
Biochimica et Biophysica Acta - Bioenergetics, Vol. 1859, Núm. 11, pp. 1235-1248