Galactosylceramidase
From Proteopedia
(Difference between revisions)
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<StructureSection load='3zr5' size='340' side='right' caption='Galactosylceramidase scene=''> | <StructureSection load='3zr5' size='340' side='right' caption='Galactosylceramidase scene=''> | ||
- | Galactosylceramidase (GALC) is a hydrolase <ref>DOI:10.2210/pdb3zr5/pdb</ref> | + | Galactosylceramidase (GALC) is a hydrolase <ref>RCSB Protein Data Bank - RCSB PDB - 3ZR5 Structure Summary. (n.d.). RCSB Protein Data Bank - RCSB PDB - 3ZR5 Structure Summary. Retrieved June 3, 2014, from www.rcsb.org DOI:10.2210/pdb3zr5/pdb</ref> that removes galactose from ceramide derivatives ('''reference'''). Galactosylceramidase in humans is encoded by the gene GALC, and mutations in this gene are associated with Krabbe disease, or globoid cell leukodystrophy <ref name=Deane>PMID: 21876145</ref>. |
==Structure== | ==Structure== | ||
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== Disease == | == Disease == | ||
- | Defects in this enzyme cause the disease known in humans as Krabbe disease. Krabbe disease is a neurodegenerative disorder characterized by widespread demyelination caused by reduced or mutated function of GALC<ref name=Deane>PMID: 21876145</ref>. | + | Defects in this enzyme cause the disease known in humans as Krabbe disease (or globoid cell leukodystrophy). Krabbe disease is a neurodegenerative disorder characterized by widespread demyelination caused by reduced or mutated function of GALC<ref name=Deane>PMID: 21876145</ref>. The deficiency of GALC leads to the accumulation of the neurotoxic metabolite 1-β-d-galactosylsphingosine (psychosine) in the central nervous system. Psychosine causes the destruction of epithelial actin structures. A common authentic model for this disease is the twitcher mouse model <ref>PMID: 23983033</ref>. |
== Relevance == | == Relevance == |
Revision as of 18:30, 3 June 2014
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References
- ↑ RCSB Protein Data Bank - RCSB PDB - 3ZR5 Structure Summary. (n.d.). RCSB Protein Data Bank - RCSB PDB - 3ZR5 Structure Summary. Retrieved June 3, 2014, from www.rcsb.org DOI:10.2210/pdb3zr5/pdb
- ↑ 2.0 2.1 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
- ↑ Belleri M, Ronca R, Coltrini D, Nico B, Ribatti D, Poliani PL, Giacomini A, Alessi P, Marchesini S, Santos MB, Bongarzone ER, Presta M. Inhibition of angiogenesis by beta-galactosylceramidase deficiency in globoid cell leukodystrophy. Brain. 2013 Sep;136(Pt 9):2859-75. doi: 10.1093/brain/awt215. PMID:23983033 doi:http://dx.doi.org/10.1093/brain/awt215
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