کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9229626 1203317 2005 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Three dimensional structural studies of α-N-acetylgalactosaminidase (α-NAGA) in α-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in α-NAGAs resulting in different substrate specificities and clinical phen
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی امراض پوستی
پیش نمایش صفحه اول مقاله
Three dimensional structural studies of α-N-acetylgalactosaminidase (α-NAGA) in α-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in α-NAGAs resulting in different substrate specificities and clinical phen
چکیده انگلیسی
Our findings suggest that the association of α-NAGA with its substrates is strongly affected by the amino acid substitution at R329 and that the association with GalNAcα1-O-Thr is more highly susceptible to structural changes. The residual mutant enzyme in R329W could not associate with GalNAcα1-O-Thr and GalNAcα1-O-Ser. However, the residual mutant enzyme in R329Q catalyzed GalNAcα1-O-Ser to some extent. Therefore, the urinary ratio of GalNAcα1-O-Ser:GalNAcα1-O-Thr was lower and the clinical phenotype was milder in the R329Q mutation. Structural analysis revealed biochemical and phenotypic differences in these Kanzaki patients with the R329Q and R329W mutation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 37, Issue 1, January 2005, Pages 15-20
نویسندگان
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