Mitochondriales ND5-Gen

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Pulkes T et al. (1999) The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

Taylor RW et al. (2002) Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Liolitsa D et al. (2003) Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

Chol M et al. (2003) The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Crimi M et al. (2003) A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Kirby DM et al. (2003) Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Nishigaki Y et al. (2004) ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.

Sudo A et al. (2004) Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Naini AB et al. (2005) Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Mayorov V et al. (2005) The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

Dickerson BC et al. (2005) Case records of the Massachusetts General Hospital. Case 36-2005. A 61-year-old woman with seizure, disturbed gait, and altered mental status.

Blok MJ et al. (2007) Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

Johns DR et al. (1991) Cytochrome b mutations in Leber hereditary optic neuropathy.

Shanske S et al. (2008) The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

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

Park JS et al. (2009) A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis.

Liu XL et al. (2011) Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.

Howell N et al. (1993) When does bilateral optic atrophy become Leber hereditary optic neuropathy?

Santorelli FM et al. (1997) Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

Orphanet article

NCBI article

OMIM.ORG article