Literature DB >> 1293397

Selective killing of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.

R Petrova-Benedict1, J R Buncic, D C Wallace, B H Robinson.   

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Year:  1992        PMID： 1293397     DOI： 10.1007/bf01800243

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

1.  Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

Authors:  D R Johns; J Berman
Journal:  Biochem Biophys Res Commun       Date:  1991-02-14       Impact factor: 3.575

2.  Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease.

Authors:  B H Robinson; L De Meirleir; M Glerum; G Sherwood; L Becker
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406

3.  The energy charge in wild-type and respiration-deficient Chinese hamster cell mutants.

Authors:  K Soderberg; E Nissinen; B Bakay; I E Scheffler
Journal:  J Cell Physiol       Date:  1980-04       Impact factor: 6.384

4.  Mapping of the genes of some components of the electron transport chain (complex I) on the X chromosome of mammals.

Authors:  C E Day; I E Scheffler
Journal:  Somatic Cell Genet       Date:  1982-11

5.  Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.

Authors:  B H Robinson; H MacMillan; R Petrova-Benedict; W G Sherwood
Journal:  J Pediatr       Date:  1987-10       Impact factor: 4.406

6.  Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.

Authors:  B H Robinson; J Ward; P Goodyer; A Baudet
Journal:  J Clin Invest       Date:  1986-05       Impact factor: 14.808

7.  The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

Authors:  B H Robinson; D M Glerum; W Chow; R Petrova-Benedict; R Lightowlers; R Capaldi
Journal:  Pediatr Res       Date:  1990-11       Impact factor: 3.756

8.  Characterization of cytochrome-c oxidase mutants in human fibroblasts.

Authors:  D M Glerum; W Yanamura; R A Capaldi; B H Robinson
Journal:  FEBS Lett       Date:  1988-08-15       Impact factor: 4.124
  8 in total
  4 in total

1.  NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.

Authors:  S Pitkänen; A Feigenbaum; R Laframboise; B H Robinson
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 2.  Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

Authors:  Adam J Kuszak; Michael Graham Espey; Marni J Falk; Marissa A Holmbeck; Giovanni Manfredi; Gerald S Shadel; Hilary J Vernon; Zarazuela Zolkipli-Cunningham
Journal:  Annu Rev Pathol       Date:  2017-11-03       Impact factor: 23.472

3.  Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Authors:  Robert Kopajtich; Thomas J Nicholls; Joanna Rorbach; Metodi D Metodiev; Peter Freisinger; Hanna Mandel; Arnaud Vanlander; Daniele Ghezzi; Rosalba Carrozzo; Robert W Taylor; Klaus Marquard; Kei Murayama; Thomas Wieland; Thomas Schwarzmayr; Johannes A Mayr; Sarah F Pearce; Christopher A Powell; Ann Saada; Akira Ohtake; Federica Invernizzi; Eleonora Lamantea; Ewen W Sommerville; Angela Pyle; Patrick F Chinnery; Ellen Crushell; Yasushi Okazaki; Masakazu Kohda; Yoshihito Kishita; Yoshimi Tokuzawa; Zahra Assouline; Marlène Rio; François Feillet; Bénédict Mousson de Camaret; Dominique Chretien; Arnold Munnich; Björn Menten; Tom Sante; Joél Smet; Luc Régal; Abraham Lorber; Asaad Khoury; Massimo Zeviani; Tim M Strom; Thomas Meitinger; Enrico S Bertini; Rudy Van Coster; Thomas Klopstock; Agnès Rötig; Tobias B Haack; Michal Minczuk; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2014-11-26       Impact factor: 11.025

4.  NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

Authors:  Robert D S Pitceathly; Shamima Rahman; Yehani Wedatilake; James M Polke; Sebahattin Cirak; A Reghan Foley; Anna Sailer; Matthew E Hurles; Jim Stalker; Iain Hargreaves; Cathy E Woodward; Mary G Sweeney; Francesco Muntoni; Henry Houlden; Jan-Willem Taanman; Michael G Hanna
Journal:  Cell Rep       Date:  2013-06-06       Impact factor: 9.423
  4 in total

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