Galactosylceramidase

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Line 1: Line 1:
<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> ('''fix reference''') 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>.
+
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==
Line 8: Line 8:
== 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

PDB ID 3zr5

Drag the structure with the mouse to rotate

References

  1. 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. 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
  3. 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

Proteopedia Page Contributors and Editors (what is this?)

Alison Stivers, Michal Harel, Dillon Shapiro, Angel Herraez, Joel L. Sussman

Personal tools