Literature DB >> 9529371

The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.

A Chomyn1.   

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Year:  1998        PMID： 9529371      PMCID： PMC1377051          DOI： 10.1086/301813

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  25 in total

1.  Mitochondrial genetics: principles and practice.

Authors:  J M Shoffner; D C Wallace
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

Review 2.  Uncharged tRNA, protein synthesis, and the bacterial stringent response.

Authors:  E Goldman; H Jakubowski
Journal:  Mol Microbiol       Date:  1990-12       Impact factor: 3.501

3.  Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.

Authors:  J Hayashi; S Ohta; A Kikuchi; M Takemitsu; Y Goto; I Nonaka
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

4.  Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease.

Authors:  D C Wallace; X X Zheng; M T Lott; J M Shoffner; J A Hodge; R I Kelley; C M Epstein; L C Hopkins
Journal:  Cell       Date:  1988-11-18       Impact factor: 41.582

5.  Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase.

Authors:  G Attardi; A Chomyn; R F Doolittle; P Mariottini; C I Ragan
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

6.  In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.

Authors:  A Chomyn; G Meola; N Bresolin; S T Lai; G Scarlato; G Attardi
Journal:  Mol Cell Biol       Date:  1991-04       Impact factor: 4.272

7.  Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Authors:  L Boulet; G Karpati; E A Shoubridge
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

8.  A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

Authors:  F M Reid; G A Vernham; H T Jacobs
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

9.  In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

Authors:  J P Masucci; M Davidson; Y Koga; E A Schon; M P King
Journal:  Mol Cell Biol       Date:  1995-05       Impact factor: 4.272

10.  Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles.

Authors:  M Yoneda; T Miyatake; G Attardi
Journal:  Mol Cell Biol       Date:  1994-04       Impact factor: 4.272
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  15 in total

1.  Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases.

Authors:  R Rossignol; T Letellier; M Malgat; C Rocher; J P Mazat
Journal:  Biochem J       Date:  2000-04-01       Impact factor: 3.857

Review 2.  Mitochondrial threshold effects.

Authors:  Rodrigue Rossignol; Benjamin Faustin; Christophe Rocher; Monique Malgat; Jean-Pierre Mazat; Thierry Letellier
Journal:  Biochem J       Date:  2003-03-15       Impact factor: 3.857

Review 3.  The yeast connection to Friedreich ataxia.

Authors:  S A Knight; R Kim; D Pain; A Dancis
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 4.  Mitochondrial genetics '98 is the bottleneck cracked?

Authors:  J Poulton; V Macaulay; D R Marchington
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

5.  Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.

Authors:  F C Mansergh; S Millington-Ward; A Kennan; A S Kiang; M Humphries; G J Farrar; P Humphries; P F Kenna
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

6.  Mitochondrial genome linearization is a causative factor for cardiomyopathy in mice and Drosophila.

Authors:  Yun Chen; Megan Sparks; Poonam Bhandari; Scot J Matkovich; Gerald W Dorn
Journal:  Antioxid Redox Signal       Date:  2013-10-22       Impact factor: 8.401

7.  Mitochondrial fusion provides an 'initial metabolic complementation' controlled by mtDNA.

Authors:  Liang Yang; Qi Long; Jinglei Liu; Haite Tang; Yuxing Li; Feixiang Bao; Dajiang Qin; Duanqing Pei; Xingguo Liu
Journal:  Cell Mol Life Sci       Date:  2015-02-24       Impact factor: 9.261

8.  Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

Authors:  H Antonická; D Floryk; P Klement; L Stratilová; J Hermanská; H Houstková; M Kalous; Z Drahota; J Zeman; J Houstek
Journal:  Biochem J       Date:  1999-09-15       Impact factor: 3.857

9.  Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation.

Authors:  Sandra R Bacman; David P Atencio; Carlos T Moraes
Journal:  Biochem J       Date:  2003-08-15       Impact factor: 3.857

10.  Faster and stronger manifestation of mitochondrial diseases in skeletal muscle than in heart related to cytosolic inorganic phosphate (Pi) accumulation.

Authors:  Bernard Korzeniewski
Journal:  J Appl Physiol (1985)       Date:  2016-06-09
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