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Title

Aminocyclitols as Pharmacological Chaperones for Glucocerebrosidase, a Defective Enzyme in Gaucher Disease

AuthorsEgido-Gabás, Meritxell ; Canals, Daniel; Casas Brugulat, Josefina; Llebaria, Amadeu ; Delgado Cirilo, Antonio
KeywordsChaperones
Cyclitols
Gaucher
Glycolipids
Glucocerebrosidase
Issue Date4-May-2007
PublisherJohn Wiley & Sons
CitationChemMedChem 2(7): 992-994 (2007)
AbstractSome genetic pathologies are associated to mutations that produce minor changes in a protein structure. Further studies to improve cell tolerance, disclose the key structural motifs required for the chaperone activity, and confer selectivity against different point mutations of the defective enzyme are currently underway in our group and will be reported in due course.
Description3 pages, 4 figures.-- PMID: 17479993 [PubMed].-- Supporting information (11 pages) available at: http://www.wiley-vch.de/contents/jc_2452/2007/z700061_s.pdf
Printed version published on Jul 7, 2007.
Publisher version (URL)http://dx.doi.org/10.1002/cmdc.200700061
URIhttp://hdl.handle.net/10261/9515
DOI10.1002/cmdc.200700061
ISSN1860-7179
Appears in Collections:(IQAC) Artículos
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