Literature DB >> 11288709

Mutations in SURF1 are not specifically associated with Leigh syndrome.

J C Von Kleist-Retzow, J Yao, J W Taanman, K Chantrel, D Chretien, V Cormier-Daire, A Rotig, A Munnich, P Rustin, E A Shoubridge.   

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Year:  2001        PMID： 11288709      PMCID： PMC1734810          DOI： 10.1136/jmg.38.2.109

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis.

Authors:  Myriam Bourens; Antoni Barrientos
Journal:  EMBO Rep       Date:  2017-01-12       Impact factor: 8.807

2.  Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

Authors:  I Valnot; S Osmond; N Gigarel; B Mehaye; J Amiel; V Cormier-Daire; A Munnich; J P Bonnefont; P Rustin; A Rötig
Journal:  Am J Hum Genet       Date:  2000-09-28       Impact factor: 11.025

Review 3.  Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process.

Authors:  Antoni Barrientos; Karine Gouget; Darryl Horn; Ileana C Soto; Flavia Fontanesi
Journal:  Biochim Biophys Acta       Date:  2008-05-15

Review 4.  Mitochondrial cytochrome c oxidase deficiency.

Authors:  Malgorzata Rak; Paule Bénit; Dominique Chrétien; Juliette Bouchereau; Manuel Schiff; Riyad El-Khoury; Alexander Tzagoloff; Pierre Rustin
Journal:  Clin Sci (Lond)       Date:  2016-03       Impact factor: 6.124

5.  SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

Authors:  C Quadalti; D Brunetti; I Lagutina; R Duchi; A Perota; G Lazzari; R Cerutti; I Di Meo; M Johnson; E Bottani; P Crociara; C Corona; S Grifoni; V Tiranti; E Fernandez-Vizarra; A J Robinson; C Viscomi; C Casalone; M Zeviani; C Galli
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2018-03-28       Impact factor: 5.187

6.  Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells.

Authors:  Emmanuel P Dassa; Eric Dufour; Sérgio Gonçalves; Vincent Paupe; Gertjan A J Hakkaart; Howard T Jacobs; Pierre Rustin
Journal:  EMBO Mol Med       Date:  2009-04       Impact factor: 12.137

7.  Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.

Authors:  M Pronicki; E Matyja; D Piekutowska-Abramczuk; T Szymanska-Debinska; A Karkucinska-Wieckowska; E Karczmarewicz; W Grajkowska; T Kmiec; E Popowska; J Sykut-Cegielska
Journal:  J Clin Pathol       Date:  2007-10-01       Impact factor: 3.411

Review 8.  Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.

Authors:  Inn-Chi Lee; Kuo-Liang Chiang
Journal:  Antioxidants (Basel)       Date:  2021-12-05
  8 in total

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