Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations
Volume: 116A, Issue: 3, Pages: 238 - 242
Published: Sep 19, 2002
Abstract
Metachromatic leukodystrophy (OMIM 250100) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA, EC 3.1.6.8). This disease affects mainly the nervous system, because patients cannot degrade 3-O-sulfo-galactosylceramide (sulfatide), a major myelin lipid. Here we describe the characterization of the biochemical effects of two arylsulfatase A missense mutations, P425T and C300F. Transfection experiments demonstrate the...
Paper Details
Title
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations
Published Date
Sep 19, 2002
Volume
116A
Issue
3
Pages
238 - 242
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