Literature DB >> 21723727

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.

Shamima Rahman1, Catherine F Clarke, Michio Hirano.   

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Year:  2011        PMID： 21723727      PMCID： PMC3222743          DOI： 10.1016/j.nmd.2011.05.001

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  64 in total

1.  Involvement of mitochondrial ferredoxin and para-aminobenzoic acid in yeast coenzyme Q biosynthesis.

Authors:  Fabien Pierrel; Olivier Hamelin; Thierry Douki; Sylvie Kieffer-Jaquinod; Ulrich Mühlenhoff; Mohammad Ozeir; Roland Lill; Marc Fontecave
Journal:  Chem Biol       Date:  2010-05-28

2.  Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Authors:  Merce Pineda; Raquel Montero; Asuncion Aracil; Mar M O'Callaghan; Ana Mas; Carmen Espinos; Dolores Martinez-Rubio; Francesc Palau; Placido Navas; Paz Briones; Rafael Artuch
Journal:  Mov Disord       Date:  2010-07-15       Impact factor: 10.338

3.  4-Nitrobenzoate inhibits coenzyme Q biosynthesis in mammalian cell cultures.

Authors:  Ulrika Forsman; Mats Sjöberg; Mikael Turunen; Pavel J Sindelar
Journal:  Nat Chem Biol       Date:  2010-06-06       Impact factor: 15.040

4.  An inherited kidney disease of mice resembling human nephronophthisis.

Authors:  M F Lyon; E V Hulse
Journal:  J Med Genet       Date:  1971-03       Impact factor: 6.318

Review 5.  Biosynthesis of ubiquinone.

Authors:  R E Olson; H Rudney
Journal:  Vitam Horm       Date:  1983       Impact factor: 3.421

6.  Demethoxy-Q, an intermediate of coenzyme Q biosynthesis, fails to support respiration in Saccharomyces cerevisiae and lacks antioxidant activity.

Authors:  Sergio Padilla; Tanya Jonassen; María A Jiménez-Hidalgo; Daniel José M Fernández-Ayala; Guillermo López-Lluch; Beth Marbois; Plácido Navas; Catherine F Clarke; Carlos Santos-Ocaña
Journal:  J Biol Chem       Date:  2004-04-12       Impact factor: 5.157

7.  Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Authors:  Sabrina Sacconi; Eva Trevisson; Leonardo Salviati; Ségolène Aymé; Odile Rigal; Alberto Garcia Redondo; Michelangelo Mancuso; Gabriele Siciliano; Paola Tonin; Corrado Angelini; Karine Auré; Anne Lombès; Claude Desnuelle
Journal:  Neuromuscul Disord       Date:  2009-11-27       Impact factor: 4.296

Review 8.  Biosynthesis and bioproduction of coenzyme Q10 by yeasts and other organisms.

Authors:  Makoto Kawamukai
Journal:  Biotechnol Appl Biochem       Date:  2009-06-22       Impact factor: 2.431

9.  Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice.

Authors:  Min Peng; Leonard Jarett; Ray Meade; Michael P Madaio; Wayne W Hancock; Alfred L George; Eric G Neilson; David L Gasser
Journal:  Kidney Int       Date:  2004-07       Impact factor: 10.612

10.  A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

Authors:  Andrew J Duncan; Maria Bitner-Glindzicz; Brigitte Meunier; Harry Costello; Iain P Hargreaves; Luis C López; Michio Hirano; Catarina M Quinzii; Michael I Sadowski; John Hardy; Andrew Singleton; Peter T Clayton; Shamima Rahman
Journal:  Am J Hum Genet       Date:  2009-04-16       Impact factor: 11.025
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  27 in total

Review 1.  CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Authors:  Michio Hirano; Caterina Garone; Catarina M Quinzii
Journal:  Biochim Biophys Acta       Date:  2012-01-18

2.  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

3.  Genetics of coenzyme q10 deficiency.

Authors:  Mara Doimo; Maria A Desbats; Cristina Cerqua; Matteo Cassina; Eva Trevisson; Leonardo Salviati
Journal:  Mol Syndromol       Date:  2014-07

4.  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

5.  Restoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation.

Authors:  Fernando Gomez; Ryoichi Saiki; Randall Chin; Chandra Srinivasan; Catherine F Clarke
Journal:  Gene       Date:  2012-06-23       Impact factor: 3.688

6.  Mitochondrial disease--an important cause of end-stage renal failure.

Authors:  Shamima Rahman; Andrew M Hall
Journal:  Pediatr Nephrol       Date:  2012-12-12       Impact factor: 3.714

7.  Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.

Authors:  Béla Iványi; Gábor Z Rácz; Péter Gál; Kitti Brinyiczki; István Bódi; Tibor Kalmár; Zoltán Maróti; Csaba Bereczki
Journal:  Pediatr Nephrol       Date:  2017-10-14       Impact factor: 3.714

8.  Treatable Leigh-like encephalopathy presenting in adolescence.

Authors:  Elisa Fassone; Yehani Wedatilake; Catherine J DeVile; W Kling Chong; Lucinda J Carr; Shamima Rahman
Journal:  BMJ Case Rep       Date:  2013-10-07

Review 9.  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

10.  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
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