This article provides a review of the mutations reported so far in the lysosomal storage disease aspartylglucosaminuria ( AGU). The clinical symptoms, biochemical findings, and diagnostic possibilities of the disease are introduced. The prevalence and biological consequences of the found mutations a
Origin of Finnish Mutations Causing Aspartylglucosaminuria
β Scribed by Sanna Valkonen; Marja Hietala; Marja-Liisa Savontaus; Pertii Aula
- Book ID
- 114810134
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 377 KB
- Volume
- 131
- Category
- Article
- ISSN
- 0018-0661
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π SIMILAR VOLUMES
Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev
The AGA gene is mutated in patients with aspartylglucosaminuria (AGU), a lysosomal storage disease enriched in the Finnish population. The disease mechanism of AGU and the biochemistry and cell biology of the lysosomal aspartylglucosaminidase (AGA) enzyme are well characterized. Here, we have invest