کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1937293 | 1050713 | 2007 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
4-Phenylbutyrate rescues trafficking incompetent mutant α-galactosidase A without restoring its functionality
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
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چکیده انگلیسی
Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A. Most mutant enzyme is catalytically active but due to misfolding retained in the endoplasmic reticulum. We have tested 4-phenylbutyrate for its potential to rescue various trafficking incompetent mutant α-galactosidase A. Although we found that the trafficking blockade for endoplasmic reticulum-retained mutant α-Gal A was released, neither a mature enzyme was detectable in transgenic mice fibroblasts nor a reversal of lysosomal Gb3 storage in fibroblasts from Fabry patients could be observed. Because of lack of functionality of rescued mutant α-galactosidase A, 4-phenylbutyrate seems to be of limited use as a chemical chaperone for Fabry disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 360, Issue 2, 24 August 2007, Pages 375–380
Journal: Biochemical and Biophysical Research Communications - Volume 360, Issue 2, 24 August 2007, Pages 375–380
نویسندگان
Gary Hin-Fai Yam, Jürgen Roth, Christian Zuber,