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Literature summary for 1.4.3.3 extracted from

  • Mitchell, J.; Paul, P.; Chen, H.J.; Morris, A.; Payling, M.; Falchi, M.; Habgood, J.; Panoutsou, S.; Winkler, S.; Tisato, V.; Hajitou, A.; Smith, B.; Vance, C.; Shaw, C.; Mazarakis, N.D.; de Belleroche, J.
    Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase (2010), Proc. Natl. Acad. Sci. USA, 107, 7556-7561.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
R199W naturally occuring mutation, the mutation in the D-amino acid oxidase gene is associated with classical adult onset familial amyotrophic lateral sclerosis the 14.52 cM region on chromosome 12q22-23 is linked to disease. Neuronal cell lines expressing R199W DAO show decreased viability and increased ubiquitinated aggregates compared with cells expressing the wild-type protein, overview. Lentiviral-mediated expression of mutant R199W DAO in primary motor neuron cultures causes increased TUNEL labeling Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Subunits

Subunits Comment Organism
homodimer
-
Homo sapiens

Synonyms

Synonyms Comment Organism
DAO
-
Homo sapiens

General Information

General Information Comment Organism
additional information mutation R199W in the D-amino acid oxidase gene, DAO is associated with classical adult onset familial amyotrophic lateral sclerosis, FALS in a three generational FALS kindred, the 14.52 cMregiononchromosome 12q22-23 is linked to disease. Lentiviral-mediated expression of R199WDAO in primary motor neuron cultures causes increased TUNEL labeling. This effect also occurs in motor neurons cocultured on transduced astrocytes expressing R199W, indicating that the motor neuron cell death induced by this mutation is mediated by both cell autonomous and noncell autonomous processes Homo sapiens