M
María Alcázar-Fabra
Researcher at Spanish National Research Council
Publications - 12
Citations - 275
María Alcázar-Fabra is an academic researcher from Spanish National Research Council. The author has contributed to research in topics: Coenzyme Q – cytochrome c reductase & Coenzyme Q10. The author has an hindex of 5, co-authored 10 publications receiving 174 citations. Previous affiliations of María Alcázar-Fabra include Carlos III Health Institute.
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Journal ArticleDOI
Coenzyme Q biosynthesis and its role in the respiratory chain structure.
TL;DR: Some lines of evidence are explored supporting the idea of the interaction of CoQ with the respiratory chain complexes, contributing to their superassembly, including respirasome, and its role in reactive oxygen species production in the mitochondrial inner membrane.
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Clinical syndromes associated with Coenzyme Q10 deficiency
TL;DR: An updated and comprehensive review of the clinical manifestations associated with each of the pathogenic variants causing primary CoQ deficiencies is presented.
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Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.
Manuel J. Acosta Lopez,Eva Trevisson,Marcella Canton,Luis Vazquez-Fonseca,Valeria Morbidoni,Elisa Baschiera,Chiara Frasson,Ludovic Pelosi,Bérengère Rascalou,Maria Andrea Desbats,María Alcázar-Fabra,José Julián Ríos,Alicia Sánchez-García,Giuseppe Basso,Plácido Navas,Fabien Pierrel,Gloria Brea-Calvo,Leonardo Salviati +17 more
TL;DR: VA can be produced in the liver by the oxidation of vanillin, a nontoxic compound commonly used as a food additive, and crosses the blood-brain barrier, which makes it a promising compound for the treatment of patients with CoQ deficiency due to COQ6 mutations.
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Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations.
TL;DR: In this article, a compilation of all the symptoms and patients with primary CoQ deficiency described in the literature so far and analyse the most common clinical manifestations associated with pathogenic variants identified in the different COQ genes.
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Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
Claudio Asencio,M. A. C. Rodríguez-Hernández,Paz Briones,Julio Montoya,Ana Cortés,Sonia Emperador,Angela Gavilán,Eduardo Ruiz-Pesini,Delia Yubero,Raquel Montero,Mercedes Pineda,Maria del Mar O’Callaghan,María Alcázar-Fabra,Leonardo Salviati,Rafael Artuch,Plácido Navas +15 more
TL;DR: These two cases describe, for the first time, a mitochondrial disease caused by PDH defects associated with unbalanced of both CoQ10 content and mitochondria homeostasis, which severely affects the brain.