کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1999891 1065881 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib
چکیده انگلیسی

The glucose-6-phosphate transporter (G6PT) deficient in glycogen storage disease type Ib is a phosphate (Pi)-linked antiporter capable of G6P: Pi and Pi:Pi exchanges. We previously characterized G6PT mutations by measuring G6P uptake activities in microsomes co-expressing G6PT and glucose-6-phosphatase-α. Here we report a new assay, based on reconstituted proteoliposomes carrying only G6PT, and characterize G6P and Pi uptake activities of 23 G6PT mutations. We show that co-expression and G6PT-only assays are equivalent in measuring G6PT activity. However, the p.Q133P mutation exhibits differential G6P and Pi transport activities, suggesting that characterizing G6P and Pi transport activities of G6PT mutations may yield insights to this genetic disorder.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 95, Issue 4, December 2008, Pages 220–223
نویسندگان
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