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

Mitochondriales ND6-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:

MELAS-Syndrom
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

Referenzen:

1.

Fan W et al. (2008) A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

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2.

Valentino ML et al. (2002) Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

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3.

Funalot B et al. (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

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4.

Howell N et al. (2003) Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.

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5.

Nishioka T et al. (2003) Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.

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6.

Solano A et al. (2003) Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.

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7.

Ugalde C et al. (2003) Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

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8.

Mackey D et al. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

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9.

Gropman A et al. (2004) Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

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10.

Laberge AM et al. (2005) A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.

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11.

Watanabe M et al. (2006) Leber's hereditary optic neuropathy with dystonia in a Japanese family.

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12.

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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13.

Ishikawa K et al. (2008) ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis.

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14.

Elliott HR et al. (2008) Pathogenic mitochondrial DNA mutations are common in the general population.

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15.

Temperley R et al. (2010) Hungry codons promote frameshifting in human mitochondrial ribosomes.

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16.

Brunette JR et al. (1970) [Diagnosis and prognosis of Leber's disease: incidence of spontaneous total recuperation].

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17.

Shoffner JM et al. (1995) Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.

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18.

Jun AS et al. (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

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19.

Johns DR et al. (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

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20.

Brown MD et al. (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

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21.

Carelli V et al. (1998) Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient.

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22.

Kirby DM et al. (2000) Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

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23.

Johns DR et al. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

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24.

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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25.

Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

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26.

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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27.

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

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28.

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

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29.

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

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30.

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

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31.

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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32.

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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33.

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

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34.

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

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35.

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

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36.

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

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37.

De Vries DD et al. (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

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38.

Piccoli C et al. (2008) Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism.

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39.

Ravn K et al. (2001) An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

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40.

Carelli V et al. (1999) Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.

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41.

Macmillan C et al. (2000) Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.

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42.

Chinnery PF et al. (2001) The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

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43.

Orphanet article

Orphanet ID 123567 external link
44.

NCBI article

NCBI 4541 external link
45.

OMIM.ORG article

Omim 516006 external link
Update: 14. August 2020
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