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M.P.5.09 Pharmacological chaperone therapy for the treatment of Pompe disease: Deoxynojirimycin increases lysosomal levels and specific activity of acid alpha-glucosidase

โœ Scribed by B. Wustman; A. Powe Jr.; J. Flanagan; R. Khanna; W. Liang; X. Wu; R. Dhulipala; R. Soska; E. Smith; C. Pine; E. Benjamin; D. Lockhart; K. Valenzano; H. Do


Book ID
116793274
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
62 KB
Volume
17
Category
Article
ISSN
0960-8966

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The pharmacological chaperone 1-deoxynoj
โœ John J. Flanagan; Barbara Rossi; Katherine Tang; Xiaoyang Wu; Kirsten Mascioli; ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 490 KB

Pompe disease is a lysosomal storage disorder (LSD) caused by mutations in the gene that encodes acid a-glucosidase (GAA). Recently, small molecule pharmacological chaperones have been shown to increase protein stability and cellular levels for mutant lysosomal enzymes and have emerged as a new ther