Literature DB >> 11916326

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

L Vilarinho1, C Barbot, R Carrozzo, E Calado, A Tessa, C Dionisi-Vici, A Guimarães, F M Santorelli.   

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Year:  2001        PMID: 11916326     DOI: 10.1023/a:1013908728445

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


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  3 in total

Review 1.  Mitochondrial DNA mutations in human disease.

Authors:  S DiMauro; E A Schon
Journal:  Am J Med Genet       Date:  2001

2.  Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.

Authors:  G Manfredi; N Gupta; M E Vazquez-Memije; J E Sadlock; A Spinazzola; D C De Vivo; E A Schon
Journal:  J Biol Chem       Date:  1999-04-02       Impact factor: 5.157

3.  The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.

Authors:  R Carrozzo; J Murray; F M Santorelli; R A Capaldi
Journal:  FEBS Lett       Date:  2000-12-15       Impact factor: 4.124

  3 in total
  3 in total

1.  Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.

Authors:  Mohammed El-Hafidi; Maria Chiara Meschini; Teresa Rizza; Filippo M Santorelli; Enrico Bertini; Rosalba Carrozzo; Martha Elisa Vázquez-Memije
Journal:  J Bioenerg Biomembr       Date:  2011-10-13       Impact factor: 2.945

2.  Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunction.

Authors:  Alicia M Celotto; Wai Kan Chiu; Wayne Van Voorhies; Michael J Palladino
Journal:  PLoS One       Date:  2011-10-03       Impact factor: 3.240

Review 3.  ATP Synthase Diseases of Mitochondrial Genetic Origin.

Authors:  Alain Dautant; Thomas Meier; Alexander Hahn; Déborah Tribouillard-Tanvier; Jean-Paul di Rago; Roza Kucharczyk
Journal:  Front Physiol       Date:  2018-04-04       Impact factor: 4.566

  3 in total

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