Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing GM1-gangliosidosis and Morquio B disease-Reference-Cited by-同舟云学术

Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing GM1-gangliosidosis and Morquio B disease

Published:2011-10-28 Issue:3 Volume:35 Page:495-503
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fantur Katrin M.,Wrodnigg Tanja M.,Stütz Arnold E.,Pabst Bettina M.,Paschke Eduard

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-011-9409-2

Reference48 articles.

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3. Bagshaw RD, Zhang S, Hinek A, Skomorowski MA, Whelan D, Clarke JT, Callahan JW (2002) Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease. Biochim Biophys Acta 1588:247–253

4. Begley DJ, Pontikis CC, Scarpa M (2008) Lysosomal storage diseases and the blood-brain barrier. Curr Pharm Des 14:1566–1580

5. Benjamin ER, Flanagan JJ, Schilling A et al. (2009) The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 32:424–440

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