Article
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.
Molecular genetics and metabolism - 1 Dec 2008
Chen Shih-Yin, Pan Chi-Jiunn, Lee Soojung, Peng Wentao, Chou Janice Y
Abstract excerpt
The glucose-6-phosphate transporter (G6PT) deficient in glycogen storage disease type Ib is a phosphate (P(i))-linked antiporter capable of G6P: P(i) and P(i):P(i) exchanges. We previously characterized G6PT mutations by measuring G6P uptake activities in microsomes co-expressing G6PT and glucose-6-phosphatase-alpha. Here we report a new assay, based on reconstituted proteoliposomes carrying only G6PT, and...
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