2nt0

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==About this Structure==
==About this Structure==
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2NT0 is a [[Single protein]] structure of 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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2NT0 is a 4 chains structure of sequences 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].
==Reference==
==Reference==
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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:[http://www.ncbi.nlm.nih.gov/pubmed/17187079 17187079]
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<ref group="xtra">PMID:17187079</ref><references group="xtra"/>
[[Category: Glucosylceramidase]]
[[Category: Glucosylceramidase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Single protein]]
 
[[Category: Lieberman, R L.]]
[[Category: Lieberman, R L.]]
[[Category: Petsko, G A.]]
[[Category: Petsko, G A.]]
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[[Category: Hydrolysis]]
[[Category: Hydrolysis]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Jul 28 01:36:01 2008''
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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 19:00, 16 February 2009

Template:STRUCTURE 2nt0

Contents

Acid-beta-glucosidase low pH, glycerol bound

Publication Abstract from PubMed

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.

Disease

Known disease associated with this structure: Gaucher disease, perinatal lethal OMIM:[606463], Gaucher disease, type I OMIM:[606463], Gaucher disease, type II OMIM:[606463], Gaucher disease, type III OMIM:[606463], Gaucher disease, type IIIC OMIM:[606463]

About this Structure

2NT0 is a 4 chains structure of sequences from Homo sapiens. Full crystallographic information is available from OCA.

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

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