3zr6
From Proteopedia
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| + | {{STRUCTURE_3zr6| PDB=3zr6 | SCENE= }} | ||
| - | + | ===STRUCTURE OF GALACTOCEREBROSIDASE FROM MOUSE IN COMPLEX WITH GALACTOSE=== | |
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| + | The line below this paragraph, {{ABSTRACT_PUBMED_21876145}}, adds the Publication Abstract to the page | ||
| + | (as it appears on PubMed at http://www.pubmed.gov), where 21876145 is the PubMed ID number. | ||
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| + | {{ABSTRACT_PUBMED_21876145}} | ||
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| + | ==About this Structure== | ||
| + | [[3zr6]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Mus_musculus Mus musculus]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3ZR6 OCA]. | ||
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| + | ==Reference== | ||
| + | <ref group="xtra">PMID:021876145</ref><references group="xtra"/> | ||
| + | [[Category: Galactosylceramidase]] | ||
| + | [[Category: Mus musculus]] | ||
| + | [[Category: Cachon-Gonzalez, M B.]] | ||
| + | [[Category: Cox, T M.]] | ||
| + | [[Category: Deane, J E.]] | ||
| + | [[Category: Graham, S C.]] | ||
| + | [[Category: Kim, N N.]] | ||
| + | [[Category: Mcnair, R.]] | ||
| + | [[Category: Read, R J.]] | ||
| + | [[Category: Stein, P E.]] | ||
| + | [[Category: Galc]] | ||
| + | [[Category: Glycosyl hydrolase]] | ||
| + | [[Category: Hydrolase]] | ||
| + | [[Category: Krabbe disease]] | ||
| + | [[Category: Lectin domain]] | ||
| + | [[Category: Tim barrel]] | ||
Revision as of 05:37, 28 September 2011
STRUCTURE OF GALACTOCEREBROSIDASE FROM MOUSE IN COMPLEX WITH GALACTOSE
Krabbe disease is a devastating neurodegenerative disease characterized by widespread demyelination that is caused by defects in the enzyme galactocerebrosidase (GALC). Disease-causing mutations have been identified throughout the GALC gene. However, a molecular understanding of the effect of these mutations has been hampered by the lack of structural data for this enzyme. Here we present the crystal structures of GALC and the GALC-product complex, revealing a novel domain architecture with a previously uncharacterized lectin domain not observed in other hydrolases. All three domains of GALC contribute residues to the substrate-binding pocket, and disease-causing mutations are widely distributed throughout the protein. Our structures provide an essential insight into the diverse effects of pathogenic mutations on GALC function in human Krabbe variants and a compelling explanation for the severity of many mutations associated with fatal infantile disease. The localization of disease-associated mutations in the structure of GALC will facilitate identification of those patients that would be responsive to pharmacological chaperone therapies. Furthermore, our structure provides the atomic framework for the design of such drugs.
Insights into Krabbe disease from structures of galactocerebrosidase., Deane JE, Graham SC, Kim NN, Stein PE, McNair R, Cachon-Gonzalez MB, Cox TM, Read RJ, Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15169-73. Epub 2011 Aug 29. PMID:21876145
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
About this Structure
3zr6 is a 1 chain structure with sequence from Mus musculus. Full crystallographic information is available from OCA.
Reference
- Deane JE, Graham SC, Kim NN, Stein PE, McNair R, Cachon-Gonzalez MB, Cox TM, Read RJ. Insights into Krabbe disease from structures of galactocerebrosidase. Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15169-73. Epub 2011 Aug 29. PMID:21876145 doi:10.1073/pnas.1105639108
