Publications in collaboration with researchers from Universidad de Granada (14)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease, Vol. 47, Núm. 5, pp. 1047-1068

2021

  1. Cellular models for primary coq deficiency pathogenesis study

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

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2018

  1. Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment

    Journal of Allergy and Clinical Immunology, Vol. 142, Núm. 4, pp. 1131-1143.e7

  2. Intracellular cholesterol accumulation and coenzyme Q10 deficiency in Familial Hypercholesterolemia

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1864, Núm. 12, pp. 3697-3713

2009

  1. Taurine supplementation modulates glucose homeostasis and islet function

    Journal of Nutritional Biochemistry, Vol. 20, Núm. 7, pp. 503-511