کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10833622 1065801 2014 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
چکیده انگلیسی
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30 °C or 37 °C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30 °C and markedly reduced activity at 37 °C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37 °C may be consistent with pathogenicity.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 111, Issue 4, April 2014, Pages 462-466
نویسندگان
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