Literature DB >> 18387363

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.

Raquel Montero1, José Antonio Sánchez-Alcázar, Paz Briones, Angeles Rodríguez Hernández, Mario D Cordero, Eva Trevisson, Leonardo Salviati, Mercé Pineda, Angels García-Cazorla, Plácido Navas, Rafael Artuch.   

Abstract

OBJECTIVES: To study CoQ(10) concentrations in muscle and fibroblast from 6 patients with a CoQ(10) deficiency syndrome. DESIGN AND METHODS: CoQ(10) was quantified by HPLC with electrochemical detection.
RESULTS: Four out of the 6 cases showed muscle CoQ(10) deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ(10) values in fibroblasts when compared with controls.
CONCLUSIONS: Biochemical study of CoQ(10) in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients.

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Year:  2008        PMID: 18387363     DOI: 10.1016/j.clinbiochem.2008.03.007

Source DB:  PubMed          Journal:  Clin Biochem        ISSN: 0009-9120            Impact factor:   3.281


  28 in total

1.  Invertebrate models for coenzyme q10 deficiency.

Authors:  Daniel J M Fernández-Ayala; Sandra Jiménez-Gancedo; Ignacio Guerra; Plácido Navas
Journal:  Mol Syndromol       Date:  2014-07

2.  Biochemical diagnosis of coenzyme q10 deficiency.

Authors:  Delia Yubero; Raquel Montero; Rafael Artuch; John M Land; Simon J R Heales; Iain P Hargreaves
Journal:  Mol Syndromol       Date:  2014-07

3.  NLRP3 inflammasome is activated in fibromyalgia: the effect of coenzyme Q10.

Authors:  Mario D Cordero; Elísabet Alcocer-Gómez; Ognjen Culic; Angel M Carrión; Manuel de Miguel; Eduardo Díaz-Parrado; Eva M Pérez-Villegas; Pedro Bullón; Maurizio Battino; José Antonio Sánchez-Alcazar
Journal:  Antioxid Redox Signal       Date:  2013-09-19       Impact factor: 8.401

Review 4.  Coenzyme Q10 deficiencies in neuromuscular diseases.

Authors:  Rafael Artuch; Leonardo Salviati; Sandra Jackson; Michio Hirano; Plácido Navas
Journal:  Adv Exp Med Biol       Date:  2009       Impact factor: 2.622

5.  New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

Authors:  María del Mar O'Callaghan; Sonia Emperador; Ester López-Gallardo; Cristina Jou; Nuria Buján; Raquel Montero; Angels Garcia-Cazorla; Diana Gonzaga; Isidre Ferrer; Paz Briones; Eduardo Ruiz-Pesini; Mercè Pineda; Rafael Artuch; Julio Montoya
Journal:  Neurogenetics       Date:  2012-05-26       Impact factor: 2.660

6.  Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.

Authors:  Claudio Asencio; María A Rodríguez-Hernandez; Paz Briones; Julio Montoya; Ana Cortés; Sonia Emperador; Angela Gavilán; Eduardo Ruiz-Pesini; Dèlia Yubero; Raquel Montero; Mercedes Pineda; María M O'Callaghan; María Alcázar-Fabra; Leonardo Salviati; Rafael Artuch; Plácido Navas
Journal:  Eur J Hum Genet       Date:  2015-05-27       Impact factor: 4.246

Review 7.  Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Authors:  Maria Andrea Desbats; Giada Lunardi; Mara Doimo; Eva Trevisson; Leonardo Salviati
Journal:  J Inherit Metab Dis       Date:  2014-08-05       Impact factor: 4.982

8.  Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Authors:  Nuria Buján; Angela Arias; Raquel Montero; Judit García-Villoria; Willy Lissens; Sara Seneca; Carmen Espinós; Plácido Navas; Linda De Meirleir; Rafael Artuch; Paz Briones; Antonia Ribes
Journal:  J Inherit Metab Dis       Date:  2013-06-18       Impact factor: 4.982

Review 9.  Mitochondrial dysfunction in inherited renal disease and acute kidney injury.

Authors:  Francesco Emma; Giovanni Montini; Samir M Parikh; Leonardo Salviati
Journal:  Nat Rev Nephrol       Date:  2016-01-25       Impact factor: 28.314

10.  Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease.

Authors:  Mario D Cordero; Manuel De Miguel; Ana M Moreno Fernández; Inés M Carmona López; Juan Garrido Maraver; David Cotán; Lourdes Gómez Izquierdo; Pablo Bonal; Francisco Campa; Pedro Bullon; Plácido Navas; José A Sánchez Alcázar
Journal:  Arthritis Res Ther       Date:  2010-01-28       Impact factor: 5.156

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