Missense mutations as a cause of metachromatic leukodystrophy : Degradation of arylsulfatase A in the endoplasmic reticulum
✍ Scribed by Peter Poeppel; Matthias Habetha; Ana Marcão; Heinrich Büssow; Linda Berna; Volkmar Gieselmann
- Book ID
- 111309878
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 418 KB
- Volume
- 272
- Category
- Article
- ISSN
- 1432-1327
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## Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H
Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of arylsulfatase A. Here we describe a hitherto unknown arylsulfatase A allele carrying a E312D missense mutation and characterize the effects of this and three previously described missense mutations, G86D, Y201C,
## Communicated by Leenu Peltonen Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. We describe a novel missense mutation in exon 6 causing the substitution of Asp335 by Val. In transient transfections no enzyme activity could be expressed fr
Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra