Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

We have isolated a 2.1 kb cDNA which encodes human aspartylglucosaminidase (AGA, E.C. 3.5.1.26). The activity of this lysosomal enzyme is deficient in aspartylglucosaminuria (AGU), a recessively inherited lysosomal accumulation disease resulting in severe mental retardation. The polypeptide chain de...

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Bibliografiske detaljer
Main Authors: Ikonen, E, Baumann, M, Grön, K, Syvänen, A C, Enomaa, N, Halila, R, Aula, P, Peltonen, L
Format: Artigo
Sprog:Inglês
Udgivet: 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC452610/
https://ncbi.nlm.nih.gov/pubmed/1703489
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