Mitochondrial ND6 gene

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

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

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

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

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

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

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

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

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

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

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

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?

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

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

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

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

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

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.

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

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

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

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

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

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

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.

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.

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

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

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

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.

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

Orphanet article

NCBI article

OMIM.ORG article

Wikipedia article