Mitochondriales ND4-Gen

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

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

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

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

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

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

None (1990) The molecular genetics of Leber's hereditary optic neuropathy.

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

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

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

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.

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

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.

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

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

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.

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.

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

None (1993) Leber's hereditary optic neuropathy. New genetic considerations.

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

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

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.

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

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

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

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

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

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

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

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.

None () Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy.

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

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

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

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

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

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

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

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.

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).

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

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

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.

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

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?

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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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NCBI article

OMIM.ORG article

Orphanet article