Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales ND5-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:

MELAS-Syndrom
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

Referenzen:

1.

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

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2.

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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3.

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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4.

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

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5.

Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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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13.

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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14.

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

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15.

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

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16.

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

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17.

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

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18.

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.

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19.

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

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20.

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

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21.

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.

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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.

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29.

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.

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30.

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

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31.

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.

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32.

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

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33.

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

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34.

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.

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35.

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

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36.

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

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