کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1260004 971710 2007 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Gaucher disease
موضوعات مرتبط
مهندسی و علوم پایه شیمی شیمی (عمومی)
پیش نمایش صفحه اول مقاله
Gaucher disease
چکیده انگلیسی

Although Gaucher disease is a rare disorder, recent developments in novel means for therapeutic intervention have invigorated both academic research and pharmaceutical industry discovery programmes. The common mutations found in the lysosomal enzyme deficient in Gaucher disease, β-glucocerebrosidase, earmark these proteins for destruction by the endoplasmic reticulum-localised protein folding machinery, resulting in enzyme insufficiency, lysosomal glycolipid storage and subsequent pathology. However, many of these mutants can be rescued from global misfolding to preserve glycolipid substrate binding and eventual catalysis in the lysosome, by the addition of subinhibitory concentrations of pharmacologically active small molecules. This novel, chaperon-mediated approach has benefited from insights into the molecular understanding of β-glucocerebrosidase structure, drug design and development in cellular models for disease.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Current Opinion in Chemical Biology - Volume 11, Issue 4, August 2007, Pages 412–418
نویسندگان
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