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Article

Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.

Neurochemical research - 1 May 2004

Yaghootfam Afshin, Baumann Nicole, Schwarz Andreas, Gieselmann Volkmar

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. This leads to the accumulation of 3-O-sulfogalactosylceramide, which results in severe demyelination. Here we describe a novel non-sense mutation W124ter and two disease-causing missense mutations E382Q and C500F in arylsulfatase A gene. Another so far unknown allele harbors three sequence alterations: two...

Topics

Alleles
Animals
Blotting, Northern
Cell Line
Cerebroside-Sulfatase
Cricetinae
Leukodystrophy, Metachromatic
Mutagenesis, Site-Directed
Polymorphism, Genetic
Precipitin Tests
Sulfoglycosphingolipids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15139291
DOI: 10.1023/b:nere.0000021237.55037.35

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