Publicaciones en colaboración con investigadores/as de Columbia University Medical Center (24)

2022

  1. Mechanisms and Therapeutic Effects of Benzoquinone Ring Analogs in Primary CoQ Deficiencies

    Antioxidants, Vol. 11, Núm. 4

2021

  1. Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction

    Journal of Advanced Research, Vol. 27, pp. 79-84

  2. Metabolic targets of coenzyme q10 in mitochondria

    Antioxidants, Vol. 10, Núm. 4

2020

  1. Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism

    Human Molecular Genetics, Vol. 29, Núm. 19, pp. 3296-3311

2018

  1. CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1864, Núm. 11, pp. 3708-3722

2017

  1. The role of sulfide oxidation impairment in the pathogenesis of primary CoQ deficiency

    Frontiers in Physiology

2015

  1. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway

    Human Molecular Genetics, Vol. 24, Núm. 16, pp. 4516-4529

  2. The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

    EMBO Molecular Medicine, Vol. 7, Núm. 5, pp. 670-687

2014

  1. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

    EMBO Molecular Medicine, Vol. 6, Núm. 8, pp. 1016-1027

  2. Pathomechanisms in coenzyme Q10-deficient human fibroblasts

    Molecular Syndromology, Vol. 5, Núm. 3-4, pp. 163-169

2013

  1. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

    JAMA Neurology, Vol. 70, Núm. 6, pp. 727-735

2012

  1. Assessment of thymidine phosphorylase function: Measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity

    Methods in Molecular Biology, Vol. 837, pp. 121-133

  2. Heterogeneity of coenzyme Q 10 deficiency: Patient study and literature review

    Archives of Neurology, Vol. 69, Núm. 8, pp. 978-983

2010

  1. Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

    FASEB Journal, Vol. 24, Núm. 10, pp. 3733-3743

  2. Treatment of CoQ10 deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: Time-and compound-dependent effects

    PLoS ONE, Vol. 5, Núm. 7

2009

  1. A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

    American Journal of Human Genetics, Vol. 84, Núm. 5, pp. 558-566

  2. Clinical and genetic analysis of lipid storage myopathies

    Muscle and Nerve, Vol. 39, Núm. 3, pp. 333-342

  3. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

    Neuromuscular Disorders, Vol. 19, Núm. 3, pp. 212-216

  4. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

    Human Molecular Genetics, Vol. 18, Núm. 4, pp. 714-722

2008

  1. ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

    American Journal of Human Genetics, Vol. 82, Núm. 3, pp. 661-672