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Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II

✍ Scribed by Monique M. P. Hermans; Marian A. Kroos; Esther De Graaff; Ben A. Oostra; Arnold J. J. Reuser

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
503 KB
Volume
2
Category
Article
ISSN
1059-7794

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✦ Synopsis

The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitution of Gly-643 by Arg and a second C-2173 to T transition in exon 15 resulting in the substitution of Arg-725 by Trp. Each of the mutations was located in a different allele. The mutations were introduced in the wild-type lysosomal a-glucosidase cDNA and expressed in COS cells. Both mutations had a similar effect. The synthesis of the mutant enzyme precursors was not disturbed but the intracellular transport and maturation were impaired. As a result there was an overall deficiency of catalytic activity.

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