Mitochondriales ND4-Gen

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

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

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?

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

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.

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

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

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).

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.

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

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

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

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

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

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.

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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.

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

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.

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

Stone EM et al. (1990) Mae III positively detects the mitochondrial mutation associated with type I 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.

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

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

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

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

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

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

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

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

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

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

Wallace DC et al. (1988) Mitochondrial DNA mutation associated 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.

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.

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

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

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

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

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

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

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

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.

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

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

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

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

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.

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.

NCBI article

OMIM.ORG article

Orphanet article