Centro Andaluz de Biología del Desarrollo (CABD)
Forschungszentrum
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (62)
2024
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Cognitive Reserve and Frontotemporal Disorders: Exploring the Relationship Between Education, Physical Activity, and Cognitive Dysfunction in Older Adults
Perceptual and Motor Skills
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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
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The Evolution of Physical Performance throughout an Entire Season in Female Football Players
Sports, Vol. 12, Núm. 2
2023
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Coenzyme Q10 Levels Associated With Cognitive Functioning and Executive Function in Older Adults
The journals of gerontology. Series A, Biological sciences and medical sciences, Vol. 78, Núm. 1, pp. 1-8
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Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis
eLife, Vol. 12
2022
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Cardiac fibroblasts display endurance to ischemia, high ROS control and elevated respiration regulated by the JAK2/STAT pathway
FEBS Journal, Vol. 289, Núm. 9, pp. 2540-2561
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Levels of Plasma Coenzyme Q10 Are Associated with Physical Capacity and Cardiovascular Risk in the Elderly
Antioxidants, Vol. 11, Núm. 2
2021
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Model cells and organisms in mitochondrial diseases
Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 231-271
2020
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Alu retrotransposons modulate Nanog expression through dynamic changes in regional chromatin conformation via aryl hydrocarbon receptor
Epigenetics and Chromatin, Vol. 13, Núm. 1
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Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions
Genome Biology, Vol. 21, Núm. 1
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Clinical presentation and proteomic signature of patients with TANGO2 mutations
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308
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Coenzyme Q10 treatment monitoring in different human biological samples
Antioxidants
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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency
Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467
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Na+ controls hypoxic signalling by the mitochondrial respiratory chain
Nature, Vol. 586, Núm. 7828, pp. 287-291
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Precision Medicine in Rare Diseases
DISEASES, Vol. 8, Núm. 4
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The Current Coenzyme Q Science and Knowledge
Coenzyme Q in Aging (Springer International Publishing), pp. 3-9
2019
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Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation
Cell Death and Differentiation, Vol. 26, Núm. 9, pp. 1545-1565
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Plasma coenzyme Q10 status is impaired in selected genetic conditions
Scientific Reports, Vol. 9, Núm. 1
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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Nature Communications, Vol. 10, Núm. 1
2018
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Molecular diagnosis of coenzyme Q 10 deficiency: an update
Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498