Publicaciones en las que colabora con Placido Navas Lloret (37)

2024

  1. 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

2021

  1. Cellular models for primary coq deficiency pathogenesis study

    International Journal of Molecular Sciences, Vol. 22, Núm. 19

  2. Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging

    BioFactors, Vol. 47, Núm. 4, pp. 551-569

2020

  1. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants

  2. 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

  1. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

2018

  1. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

  2. The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis

    Biochimica et Biophysica Acta - Bioenergetics, Vol. 1859, Núm. 11, pp. 1235-1248

2017

  1. Balanced CoQ6 biosynthesis is required for lifespan and mitophagy in yeast

    Microbial Cell, Vol. 4, Núm. 2, pp. 38-51

  2. Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene

    Stem Cell Research, Vol. 24, pp. 144-147

  3. 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

2015

  1. Mitochondrial responsibility in ageing process: innocent, suspect or guilty

    Biogerontology, Vol. 16, Núm. 5, pp. 599-620

  2. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

  3. The genes of coenzyme Q10 biosynthesis

    Coenzyme Q10: From Fact to Fiction (Nova Science Publishers, Inc.), pp. 205-225

2014

  1. Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1842, Núm. 1, pp. 1-6

  2. Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

    Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, Vol. 1841, Núm. 11, pp. 1628-1638

2013

  1. The phosphatase Ptc7 induces coenzyme Q biosynthesis by activating the hydroxylase Coq7 in yeast

    Journal of Biological Chemistry, Vol. 288, Núm. 39, pp. 28126-28137

2012

  1. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191

2011

  1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    Journal of Clinical Investigation, Vol. 121, Núm. 5, pp. 2013-2024

  2. Respiratory-induced coenzyme Q biosynthesis is regulated by a phosphorylation cycle of Cat5p/Coq7p

    Biochemical Journal, Vol. 440, Núm. 1, pp. 107-114