Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Mitochondriales ND3-Gen

Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex?

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2.

Yatscoff RW et al. (1978) Conservation of genes coding for proteins synthesized in human mitochondria.

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3.

Oliver NA et al. (1983) Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.

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4.

Spinner NB et al. (1986) Polymorphisms of mitochondrially encoded proteins.

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5.

None (1986) Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance.

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6.

Wang K et al. (2009) Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

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7.

Chae JH et al. (2007) A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.

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8.

Sarzi E et al. (2007) A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

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9.

Bhat A et al. (2007) The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study.

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10.

Pyle A et al. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

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11.

Kirby DM et al. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

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12.

McFarland R et al. (2004) De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

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13.

van der Walt JM et al. (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.

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14.

Taylor RW et al. (2001) Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

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15.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

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16.

Herrnstadt C et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.

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17.

Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.

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18.

Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

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19.

Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.

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20.

Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

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21.

Chomyn A et al. (1983) Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA.

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22.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

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23.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

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24.

Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

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25.

Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

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26.

Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

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27.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

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28.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

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29.

NCBI article

NCBI 4537 external link
30.

OMIM.ORG article

Omim 516002 external link
31.

Orphanet article

Orphanet ID 123547 external link
Update: 14. August 2020
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