Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales ND4-Gen

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

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Referenzen:

1.

Wong A et al. (2002) Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.

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2.

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

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3.

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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4.

Johns DR et al. (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.

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5.

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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6.

Howell N et al. (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.

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7.

Johns DR et al. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

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8.

Majander A et al. (1991) Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

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9.

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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10.

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

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11.

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

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12.

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

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13.

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

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14.

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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15.

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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16.

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17.

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

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18.

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

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19.

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

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20.

Chinnery PF et al. (2001) Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

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21.

Guy J et al. (2002) Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy.

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22.

Mimaki M et al. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.

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23.

Deschauer M et al. (2003) Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.

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24.

Lertrit P et al. (1992) A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

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25.

Zhu DP et al. (1992) Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

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26.

Sudoyo H et al. (1992) Molecular genetics of Leber's hereditary optic neuropathy: study of a six-generation family from Western Australia.

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27.

Mashima Y et al. (1992) Remission of Leber's hereditary optic neuropathy with idebenone.

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28.

Bruyn GW et al. (1992) Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings.

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29.

Qu J et al. (2006) The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.

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30.

Phasukkijwatana N et al. (2006) The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees.

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31.

Carelli V et al. (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

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32.

Larsson NG et al. (1991) Leber's hereditary optic neuropathy and complex I deficiency in muscle.

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33.

Poulton J et al. (1991) Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy.

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34.

Cortelli P et al. (1991) Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.

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35.

Ellouze S et al. (2008) Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.

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36.

Ji Y et al. (2008) Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

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37.

Carducci C et al. (1991) Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

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38.

Kormann BA et al. (1991) Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

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39.

Vilkki J et al. (1990) Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

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40.

Stone EM et al. (1990) Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.

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41.

Newman NJ et al. (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

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42.

Johns DR et al. (1990) The molecular genetics of Leber's hereditary optic neuropathy.

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43.

Huoponen K et al. (1990) Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.

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44.

Lott MT et al. (1990) Variable genotype of Leber's hereditary optic neuropathy patients.

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45.

Newman NJ et al. (1990) Mitochondria and Leber's hereditary optic neuropathy.

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46.

Bolhuis PA et al. (1990) Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

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47.

Yoneda M et al. (1989) Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy.

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48.

Singh G et al. (1989) A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.

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49.

Holt IJ et al. (1989) Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

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50.

Vilkki J et al. (1989) Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.

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51.

Hotta Y et al. (1989) Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification.

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52.

Wallace DC et al. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

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53.

Danks RA et al. (1988) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema.

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54.

Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

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55.

Nørby S et al. () Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy.

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56.

Mashima Y et al. (1993) High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy.

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57.

Sakuta R et al. (1993) An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.

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58.

Cullom ME et al. (1993) Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia.

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59.

Smith KH et al. (1993) Heteroplasmy in Leber's hereditary optic neuropathy.

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60.

Johns DR et al. (1993) Identical twins who are discordant for Leber's hereditary optic neuropathy.

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61.

Mashima Y et al. (1993) DNA diagnosis of Leber's hereditary optic neuropathy by using dried blood specimens.

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62.

Cavelier L et al. (1993) Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.

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63.

Nakamura M et al. (1993) Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.

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64.

Erickson CE et al. (1993) PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy.

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65.

Moorman CM et al. (1993) Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood.

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66.

Weiner NC et al. (1993) Atypical Leber's hereditary optic neuropathy with molecular confirmation.

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67.

Newman NJ et al. (1993) Leber's hereditary optic neuropathy. New genetic considerations.

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68.

Kogelnik AM et al. (1996) MITOMAP: a human mitochondrial genome database.

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69.

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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70.

Torroni A et al. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

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