2nt0
From Proteopedia
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{{STRUCTURE_2nt0| PDB=2nt0 | SCENE= }} | {{STRUCTURE_2nt0| PDB=2nt0 | SCENE= }} | ||
===Acid-beta-glucosidase low pH, glycerol bound=== | ===Acid-beta-glucosidase low pH, glycerol bound=== | ||
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{{ABSTRACT_PUBMED_17187079}} | {{ABSTRACT_PUBMED_17187079}} | ||
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| - | ==Disease== | ||
| - | Known disease associated with this structure: Gaucher disease, perinatal lethal OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463 606463]], Gaucher disease, type I OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463 606463]], Gaucher disease, type II OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463 606463]], Gaucher disease, type III OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463 606463]], Gaucher disease, type IIIC OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463 606463]] | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[2nt0]] is a 4 chain structure of [[Acid-beta-glucosidase]] with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2NT0 OCA]. | |
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| + | ==See Also== | ||
| + | *[[Acid-beta-glucosidase|Acid-beta-glucosidase]] | ||
==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID: | + | <ref group="xtra">PMID:017187079</ref><references group="xtra"/> |
[[Category: Glucosylceramidase]] | [[Category: Glucosylceramidase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
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[[Category: Glucocerebrosidase]] | [[Category: Glucocerebrosidase]] | ||
[[Category: Glucosylceramide]] | [[Category: Glucosylceramide]] | ||
| + | [[Category: Hydrolase]] | ||
[[Category: Hydrolysis]] | [[Category: Hydrolysis]] | ||
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| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Feb 16 21:00:34 2009'' | ||
Revision as of 23:45, 25 July 2012
Contents |
Acid-beta-glucosidase low pH, glycerol bound
Gaucher disease results from mutations in the lysosomal enzyme acid beta-glucosidase (GCase). Although enzyme replacement therapy has improved the health of some affected individuals, such as those with the prevalent N370S mutation, oral treatment with pharmacological chaperones may be therapeutic in a wider range of tissue compartments by restoring sufficient activity of endogenous mutant GCase. Here we demonstrate that isofagomine (IFG, 1) binds to the GCase active site, and both increases GCase activity in cell lysates and restores lysosomal trafficking in cells containing N370S mutant GCase. We also compare the crystal structures of IFG-bound GCase at low pH with those of glycerol-bound GCase at low pH and apo-GCase at neutral pH. Our data indicate that IFG induces active GCase, which is secured by interactions with Asn370. The design of small molecules that stabilize substrate-bound conformations of mutant proteins may be a general therapeutic strategy for diseases caused by protein misfolding and mistrafficking.
Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease., Lieberman RL, Wustman BA, Huertas P, Powe AC Jr, Pine CW, Khanna R, Schlossmacher MG, Ringe D, Petsko GA, Nat Chem Biol. 2007 Feb;3(2):101-7. Epub 2006 Dec 24. PMID:17187079
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
About this Structure
2nt0 is a 4 chain structure of Acid-beta-glucosidase with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Lieberman RL, Wustman BA, Huertas P, Powe AC Jr, Pine CW, Khanna R, Schlossmacher MG, Ringe D, Petsko GA. Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat Chem Biol. 2007 Feb;3(2):101-7. Epub 2006 Dec 24. PMID:17187079 doi:http://dx.doi.org/10.1038/nchembio850
