Literature DB >> 1713858

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].

B Obermaier-Kusser1, I Paetzke-Brunner, C Enter, J Müller-Höcker, S Zierz, W Ruitenbeek, K D Gerbitz.   

Abstract

A heteroplasmic point mutation (transition A to G at position 3243 in the mitochondrial tRNA(Leu(UUR)) gene is indicative for myo-encephalopathy with lactic acidosis and stroke-like episodes (MELAS). Decreased respiratory chain complex activities measured in different tissues from four patients with MELAS syndrome do not correlate with the proportion of mutated mitochondrial genome.

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Year:  1991        PMID： 1713858     DOI： 10.1016/0014-5793(91)80942-v

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  8 in total

1.  Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly.

Authors:  J Müller-Höcker; P Seibel; K Schneiderbanger; B Kadenbach
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

2.  Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.

Authors:  P M Matthews; R M Brown; K Morten; D Marchington; J Poulton; G Brown
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

3.  Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

Authors:  P M Matthews; J Hopkin; R M Brown; J B Stephenson; D Hilton-Jones; G K Brown
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

Review 4.  Molecular basis of mitochondrial DNA disease.

Authors:  M D Brown; D C Wallace
Journal:  J Bioenerg Biomembr       Date:  1994-06       Impact factor: 2.945

5.  Evidence for a life span-prolonging effect of a linear plasmid in a longevity mutant of Podospora anserina.

Authors:  J Hermanns; A Asseburg; H D Osiewacz
Journal:  Mol Gen Genet       Date:  1994-05-10

6.  Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Authors:  M Kishimoto; M Hashiramoto; S Araki; Y Ishida; T Kazumi; E Kanda; M Kasuga
Journal:  Diabetologia       Date:  1995-02       Impact factor: 10.122

7.  Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood.

Authors:  Harsha Karur Rajasimha; Patrick F Chinnery; David C Samuels
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

8.  Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis.

Authors:  Leila Motlagh Scholle; Stephan Zierz; Christian Mawrin; Claudia Wickenhauser; Diana Lehmann Urban
Journal:  Genes (Basel)       Date:  2020-02-18       Impact factor: 4.096
  8 in total

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