Literature DB >> 1434521

The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations.

Y Kobayashi1, K Ichihashi, S Ohta, K Nihei, Y Kagawa, M Yanagisawa, M Y Momoi.   

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Year:  1992        PMID： 1434521     DOI： 10.1007/bf01800025

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


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  15 in total

1.  A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

Authors:  Y Kobayashi; M Y Momoi; K Tominaga; T Momoi; K Nihei; M Yanagisawa; Y Kagawa; S Ohta
Journal:  Biochem Biophys Res Commun       Date:  1990-12-31       Impact factor: 3.575

2.  Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.

Authors:  M Zeviani; C Gellera; M Pannacci; G Uziel; A Prelle; S Servidei; S DiDonato
Journal:  Ann Neurol       Date:  1990-07       Impact factor: 10.422

3.  Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

Authors:  S Shanske; C T Moraes; A Lombes; A F Miranda; E Bonilla; P Lewis; M A Whelan; C A Ellsworth; S DiMauro
Journal:  Neurology       Date:  1990-01       Impact factor: 9.910

4.  A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

5.  Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA.

Authors:  I J Holt; A E Harding; J M Cooper; A H Schapira; A Toscano; J B Clark; J A Morgan-Hughes
Journal:  Ann Neurol       Date:  1989-12       Impact factor: 10.422

6.  Generation of human myogenic cell lines by the transformation of primary culture with origin-defective SV40 DNA.

Authors:  T Nakamigawa; M Y Momoi; T Momoi; M Yanagisawa
Journal:  J Neurol Sci       Date:  1988-02       Impact factor: 3.181

7.  Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

Authors:  Y Kobayashi; M Y Momoi; K Tominaga; H Shimoizumi; K Nihei; M Yanagisawa; Y Kagawa; S Ohta
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

8.  A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.

Authors:  M Yoneda; Y Tanno; S Horai; T Ozawa; T Miyatake; S Tsuji
Journal:  Biochem Int       Date:  1990-08

9.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

Authors:  C T Moraes; S DiMauro; M Zeviani; A Lombes; S Shanske; A F Miranda; H Nakase; E Bonilla; L C Werneck; S Servidei
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

10.  Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues.

Authors:  C Ponzetto; N Bresolin; A Bordoni; M Moggio; G Meola; L Bet; A Prelle; G Scarlato
Journal:  J Neurol Sci       Date:  1990-05       Impact factor: 3.181
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  7 in total

1.  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

2.  Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation.

Authors:  S Saitoh; M Y Momoi; T Yamagata; H Nakauchi; K Nihei; M Fujii
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

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

4.  Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients.

Authors:  H Katagiri; T Asano; H Ishihara; K Inukai; M Anai; T Yamanouchi; K Tsukuda; M Kikuchi; H Kitaoka; N Ohsawa
Journal:  Diabetologia       Date:  1994-05       Impact factor: 10.122

5.  Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

Authors:  Mahsa Mehrazin; Sara Shanske; Petra Kaufmann; Ying Wei; Jorida Coku; Kristin Engelstad; Ali Naini; Darryl C De Vivo; Salvatore DiMauro
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

6.  The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation.

Authors:  Leila Motlagh Scholle; Helena Schieffers; Samiya Al-Robaiy; Annemarie Thaele; Faramarz Dehghani; Diana Lehmann Urban; Stephan Zierz
Journal:  Biomolecules       Date:  2020-07-24

7.  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
  7 in total

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