3s5z - Revision history

OCA at 12:47, 14 March 2024

2024-03-14T12:47:56Z

←Older revision		Revision as of 12:47, 14 March 2024
Line 3:		Line 3:
	<StructureSection load='3s5z' size='340' side='right'caption='[[3s5z]], [[Resolution\|resolution]] 2.00Å' scene=''>		<StructureSection load='3s5z' size='340' side='right'caption='[[3s5z]], [[Resolution\|resolution]] 2.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/~~Human Human~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=~~GAL~~:~~BETA~~-D-~~GALACTOSE~~'>~~GAL~~</scene>, <scene name='pdbligand=~~GLA~~:~~ALPHA+~~D-GALACTOSE'>~~GLA~~</scene>, <scene name='pdbligand=~~GOL~~:~~GLYCEROL~~'>~~GOL~~</scene>, <scene name='pdbligand=~~NAG~~:~~N-ACETYL-D-GLUCOSAMINE~~'>~~NAG~~</scene>, <scene name='pdbligand=~~FUC~~:ALPHA-L-~~FUCOSE~~'>~~FUC~~</scene>, <scene name='pdbligand=~~MAN~~:~~ALPHA~~-D-~~MANNOSE~~'>~~MAN~~</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene~~></td></tr>~~	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution\|Resolution]] 2.001Å</td></tr>
-	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</div></td></tr>	+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=GLA:ALPHA+D-GALACTOSE'>GLA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>
-	~~<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>~~	+
-	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Alpha-galactosidase Alpha-galactosidase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.22 3.2.1.22] </span></td></tr>	+
	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3s5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3s5z OCA], [https://pdbe.org/3s5z PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3s5z RCSB], [https://www.ebi.ac.uk/pdbsum/3s5z PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3s5z ProSAT]</span></td></tr>		<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3s5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3s5z OCA], [https://pdbe.org/3s5z PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3s5z RCSB], [https://www.ebi.ac.uk/pdbsum/3s5z PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3s5z ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects in GLA are the cause of Fabry disease (FD) [MIM:[https://omim.org/entry/301500 301500]]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>	+	[https://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN] Defects in GLA are the cause of Fabry disease (FD) [MIM:[https://omim.org/entry/301500 301500]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>
-	~~<div style~~=~~"background-color:#fffaf0;">~~	+	== Function ==
-	=~~= Publication Abstract from PubMed~~ ==	+	[https://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]
-	Fabry disease patients show a deficiency in the activity of the lysosomal enzyme alpha-galactosidase (alpha-GAL or alpha-Gal A). One proposed treatment for Fabry disease is pharmacological chaperone therapy, where a small molecule stabilizes the alpha-GAL protein, leading to increased enzymatic activity. Using enzyme kinetics, tryptophan fluorescence, circular dichroism, and proteolysis assays, we show that the pharmacological chaperones 1-deoxygalactonojirimycin (DGJ) and galactose stabilize the human alpha-GAL glycoprotein. Crystal structures of complexes of alpha-GAL and chaperones explain the molecular basis for the higher potency of DGJ over galactose. Using site-directed mutagenesis, we show the higher potency of DGJ results from an ionic interaction with D170. We propose that protonation of D170 in acidic conditions leads to weaker binding of DGJ. The results establish a biochemical basis for pharmacological chaperone therapy applicable to other protein misfolding diseases.	+
-		+
-	~~The Molecular Basis of Pharmacological Chaperoning in Human alpha-Galactosidase.,Guce AI, Clark NE, Rogich JJ, Garman SC Chem Biol. 2011 Dec 23;18(12)~~:~~1521-6. PMID:22195554<ref>PMID:22195554<~~/~~ref>~~	+
-		+
-	~~From MEDLINE®~~/~~PubMed®, a database of the U~~.S. ~~National Library of Medicine.<br>~~	+
-	</~~div>~~	+
-	~~<div class="pdbe-citations 3s5z" style="background-color:#fffaf0;"><~~/~~div>~~	+

	==See Also==		==See Also==
Line 28:		Line 19:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Alpha-galactosidase]]~~	+	[[Category: Homo sapiens]]
-	~~[[Category: Human~~]]	+
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Clark~~, N E~~]]	+	[[Category: Clark NE]]
-	[[Category: Garman~~, S C~~]]	+	[[Category: Garman SC]]
-	[[Category: Guce~~, A I]]~~	+	[[Category: Guce AI]]
-	~~[[Category: Carbohydrate-binding protein]]~~	+
-	~~[[Category: Glycoprotein]]~~	+
-	~~[[Category: Glycosidase]]~~	+
-	~~[[Category: Hydrolase]]~~	+
-	~~[[Category: Lysosomal enzyme]]~~	+
-	~~[[Category: Pharmacological chaperone~~]]	+

OCA at 10:39, 22 June 2022

2022-06-22T10:39:39Z

←Older revision		Revision as of 10:39, 22 June 2022
Line 1:		Line 1:

	==Pharmacological Chaperoning in Human alpha-Galactosidase==		==Pharmacological Chaperoning in Human alpha-Galactosidase==
-	<StructureSection load='3s5z' size='340' side='right' caption='[[3s5z]], [[Resolution\|resolution]] 2.00Å' scene=''>	+	<StructureSection load='3s5z' size='340' side='right'caption='[[3s5z]], [[Resolution\|resolution]] 2.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure with sequence from [~~http~~://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=~~FUC~~:~~ALPHA~~-L-~~FUCOSE~~'>~~FUC~~</scene>, <scene name='pdbligand=~~GAL~~:~~BETA-~~D-GALACTOSE'>~~GAL~~</scene>, <scene name='pdbligand=~~GLA~~:~~ALPHA+D-GALACTOSE~~'>~~GLA~~</scene>, <scene name='pdbligand=~~GOL~~:~~GLYCEROL~~'>~~GOL~~</scene>, <scene name='pdbligand=~~MAN~~:ALPHA-D-~~MANNOSE~~'>~~MAN~~</scene>, <scene name='pdbligand=~~NAG~~:~~N-ACETYL~~-D-~~GLUCOSAMINE~~'>~~NAG~~</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=GLA:ALPHA+D-GALACTOSE'>GLA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>
-	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</td></tr>	+	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</div></td></tr>
-	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>	+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[~~http~~://en.wikipedia.org/wiki/Alpha-galactosidase Alpha-galactosidase], with EC number [~~http~~://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.22 3.2.1.22] </span></td></tr>	+	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Alpha-galactosidase Alpha-galactosidase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.22 3.2.1.22] </span></td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=3s5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3s5z OCA], [~~http~~://pdbe.org/3s5z PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=3s5z RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/3s5z PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=3s5z ProSAT]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3s5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3s5z OCA], [https://pdbe.org/3s5z PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3s5z RCSB], [https://www.ebi.ac.uk/pdbsum/3s5z PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3s5z ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects in GLA are the cause of Fabry disease (FD) [MIM:[~~http~~://omim.org/entry/301500 301500]]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>	+	[[https://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects in GLA are the cause of Fabry disease (FD) [MIM:[https://omim.org/entry/301500 301500]]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 21:		Line 21:
	</div>		</div>
	<div class="pdbe-citations 3s5z" style="background-color:#fffaf0;"></div>		<div class="pdbe-citations 3s5z" style="background-color:#fffaf0;"></div>
		+
		+	==See Also==
		+	*[[Galactosidase 3D structures\|Galactosidase 3D structures]]
	== References ==		== References ==
	<references/>		<references/>
Line 27:		Line 30:
	[[Category: Alpha-galactosidase]]		[[Category: Alpha-galactosidase]]
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Clark, N E]]		[[Category: Clark, N E]]
	[[Category: Garman, S C]]		[[Category: Garman, S C]]

OCA at 09:33, 8 November 2017

2017-11-08T09:33:39Z

←Older revision		Revision as of 09:33, 8 November 2017
Line 4:		Line 4:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>		<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=~~GAL~~:~~BETA~~-D-~~GALACTOSE~~'>~~GAL~~</scene>, <scene name='pdbligand=~~GLA~~:~~ALPHA+~~D-GALACTOSE'>~~GLA~~</scene>, <scene name='pdbligand=~~GOL~~:~~GLYCEROL~~'>~~GOL~~</scene>, <scene name='pdbligand=~~NAG~~:~~N-ACETYL-D-GLUCOSAMINE~~'>~~NAG~~</scene>, <scene name='pdbligand=~~FUC~~:ALPHA-L-~~FUCOSE~~'>~~FUC~~</scene>, <scene name='pdbligand=~~MAN~~:~~ALPHA~~-D-~~MANNOSE~~'>~~MAN~~</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=GLA:ALPHA+D-GALACTOSE'>GLA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>
	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</td></tr>
	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
Line 21:		Line 21:
	</div>		</div>
	<div class="pdbe-citations 3s5z" style="background-color:#fffaf0;"></div>		<div class="pdbe-citations 3s5z" style="background-color:#fffaf0;"></div>
-
-	==See Also==
-	*[[Galactosidase\|Galactosidase]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 03:32, 5 August 2016

2016-08-05T03:32:01Z

←Older revision		Revision as of 03:32, 5 August 2016
Line 1:		Line 1:
		+
	==Pharmacological Chaperoning in Human alpha-Galactosidase==		==Pharmacological Chaperoning in Human alpha-Galactosidase==
	<StructureSection load='3s5z' size='340' side='right' caption='[[3s5z]], [[Resolution\|resolution]] 2.00Å' scene=''>		<StructureSection load='3s5z' size='340' side='right' caption='[[3s5z]], [[Resolution\|resolution]] 2.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure 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=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=GLA:ALPHA+D-GALACTOSE'>GLA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=GLA:ALPHA+D-GALACTOSE'>GLA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>
	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</td></tr>
-	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Alpha-galactosidase Alpha-galactosidase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.22 3.2.1.22] </span></td></tr>		<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Alpha-galactosidase Alpha-galactosidase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.22 3.2.1.22] </span></td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3s5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3s5z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3s5z RCSB], [http://www.ebi.ac.uk/pdbsum/3s5z PDBsum]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3s5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3s5z OCA], [http://pdbe.org/3s5z PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=3s5z RCSB], [http://www.ebi.ac.uk/pdbsum/3s5z PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=3s5z ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 19:		Line 20:
	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>		From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
	</div>		</div>
		+	<div class="pdbe-citations 3s5z" style="background-color:#fffaf0;"></div>

	==See Also==		==See Also==
Line 27:		Line 29:
	</StructureSection>		</StructureSection>
	[[Category: Alpha-galactosidase]]		[[Category: Alpha-galactosidase]]
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Clark, N E]]		[[Category: Clark, N E]]
	[[Category: Garman, S C]]		[[Category: Garman, S C]]

OCA at 15:31, 25 December 2014

2014-12-25T15:31:19Z

←Older revision		Revision as of 15:31, 25 December 2014
Line 11:		Line 11:
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects in GLA are the cause of Fabry disease (FD) [MIM:[http://omim.org/entry/301500 301500]]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>		[[http://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects in GLA are the cause of Fabry disease (FD) [MIM:[http://omim.org/entry/301500 301500]]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>
-	== Function ==
-
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==

OCA at 07:22, 21 December 2014

2014-12-21T07:22:17Z

←Older revision		Revision as of 07:22, 21 December 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_3s5z~~\| ~~PDB~~=3s5z \| ~~SCENE~~= }}	+	==Pharmacological Chaperoning in Human alpha-Galactosidase==
-	===~~Pharmacological Chaperoning in Human alpha~~-~~Galactosidase~~===	+	<StructureSection load='3s5z' size='340' side='right' caption='[[3s5z]], [[Resolution\|resolution]] 2.00Å' scene=''>
-	~~{{ABSTRACT_PUBMED_22195554}}~~	+	== Structural highlights ==
		+	<table><tr><td colspan='2'>[[3s5z]] is a 2 chain structure 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=3S5Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3S5Z FirstGlance]. <br>
		+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=GLA:ALPHA+D-GALACTOSE'>GLA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=XYP:BETA-D-XYLOPYRANOSE'>XYP</scene></td></tr>
		+	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[3s5y\|3s5y]], [[3hg2\|3hg2]], [[3hg3\|3hg3]], [[3hg4\|3hg4]], [[3hg5\|3hg5]], [[1r46\|1r46]], [[1r47\|1r47]]</td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GLA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
		+	<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Alpha-galactosidase Alpha-galactosidase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.2.1.22 3.2.1.22] </span></td></tr>
		+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3s5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3s5z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3s5z RCSB], [http://www.ebi.ac.uk/pdbsum/3s5z PDBsum]</span></td></tr>
		+	</table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects in GLA are the cause of Fabry disease (FD) [MIM:[http://omim.org/entry/301500 301500]]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>
		+	== Function ==

-	==~~Disease~~==	+	<div style="background-color:#fffaf0;">
-	~~[[http://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects~~ in ~~GLA are~~ the ~~cause~~ of ~~Fabry disease~~ (FD) ~~[MIM:[http://omim~~.~~org/entry/301500 301500]]. FD~~ is a ~~rare X~~-~~linked sphingolipidosis disease where glycolipid accumulates in many tissues~~. ~~The disease consists of an inborn error of glycosphingolipid catabolism. FD patients~~ show ~~systemic accumulation of globotriaoslyceramide~~ (~~Gb3~~) and ~~related glycosphingolipids in~~ the ~~plasma~~ and ~~cellular lysosomes throughout~~ the ~~body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas)~~ over ~~the lower trunk~~. ~~Patients may~~ show ~~ocular deposits, febrile episodes, and burning pain in~~ the ~~extremities. Death~~ results from ~~renal failure, cardiac or cerebral complications~~ of ~~hypertension or other vascular disease. Heterozygous females may exhibit the disorder~~ in ~~an attenuated form, they are more likely~~ to ~~show corneal opacities~~.<ref>PMID:2152885</ref><ref>PMID:1846223</ref><ref>PMID:2171331</ref><ref>PMID:2539398</ref><ref>PMID:1315715</ref><ref>PMID:7504405</ref><ref>PMID:8395937</ref><ref>PMID:8069316</ref><ref>PMID:7531540</ref><ref>PMID:7575533</ref><ref>PMID:7759078</ref><ref>PMID:7599642</ref><ref>PMID:7596372</ref><ref>PMID:8738659</ref><ref>PMID:8875188</ref><ref>PMID:8834244</ref><ref>PMID:8931708</ref><ref>PMID:8807334</ref><ref>PMID:8863162</ref><ref>PMID:9105656</ref><ref>PMID:9100224</ref><ref>PMID:9554750</ref><ref>PMID:9452068</ref><ref>PMID:9452090</ref><ref>PMID:9452111</ref><ref>PMID:10208848</ref><ref>PMID:10090526</ref><ref>PMID:10838196</ref><ref>PMID:10666480</ref><ref>PMID:11076046</ref><ref>PMID:10916280</ref><ref>PMID:11295840</ref><ref>PMID:11668641</ref><ref>PMID:11889412</ref><ref>PMID:12694230</ref><ref>PMID:12786754</ref><ref>PMID:15162124</ref><ref>PMID:15712228</ref><ref>PMID:16533976</ref><ref>PMID:19621417</ref>	+	== Publication Abstract from PubMed ==
		+	Fabry disease patients show a deficiency in the activity of the lysosomal enzyme alpha-galactosidase (alpha-GAL or alpha-Gal A). One proposed treatment for Fabry disease is pharmacological chaperone therapy, where a small molecule stabilizes the alpha-GAL protein, leading to increased enzymatic activity. Using enzyme kinetics, tryptophan fluorescence, circular dichroism, and proteolysis assays, we show that the pharmacological chaperones 1-deoxygalactonojirimycin (DGJ) and galactose stabilize the human alpha-GAL glycoprotein. Crystal structures of complexes of alpha-GAL and chaperones explain the molecular basis for the higher potency of DGJ over galactose. Using site-directed mutagenesis, we show the higher potency of DGJ results from an ionic interaction with D170. We propose that protonation of D170 in acidic conditions leads to weaker binding of DGJ. The results establish a biochemical basis for pharmacological chaperone therapy applicable to other protein misfolding diseases.

-	~~==About this Structure==~~	+	The Molecular Basis of Pharmacological Chaperoning in Human alpha-Galactosidase.,Guce AI, Clark NE, Rogich JJ, Garman SC Chem Biol. 2011 Dec 23;18(12):1521-6. PMID:22195554<ref>PMID:22195554</ref>
-	~~[[3s5z]] is a 2 chain structure 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=3S5Z OCA].~~	+
		+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
		+	</div>

	==See Also==		==See Also==
	*[[Galactosidase\|Galactosidase]]		*[[Galactosidase\|Galactosidase]]
-		+	== References ==
-	==~~Reference~~==	+	<references/>
-	~~<ref group="xtra">PMID:022195554</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	__TOC__
		+	</StructureSection>
	[[Category: Alpha-galactosidase]]		[[Category: Alpha-galactosidase]]
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Clark, N E.]]	+	[[Category: Clark, N E]]
-	[[Category: Garman, S C.]]	+	[[Category: Garman, S C]]
-	[[Category: Guce, A I.]]	+	[[Category: Guce, A I]]
	[[Category: Carbohydrate-binding protein]]		[[Category: Carbohydrate-binding protein]]
	[[Category: Glycoprotein]]		[[Category: Glycoprotein]]

OCA at 10:13, 24 March 2013

2013-03-24T10:13:45Z

←Older revision		Revision as of 10:13, 24 March 2013
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-	[[Image:3s5z.png\|left\|200px]]
-
	{{STRUCTURE_3s5z\| PDB=3s5z \| SCENE= }}		{{STRUCTURE_3s5z\| PDB=3s5z \| SCENE= }}
-
	===Pharmacological Chaperoning in Human alpha-Galactosidase===		===Pharmacological Chaperoning in Human alpha-Galactosidase===
		+	{{ABSTRACT_PUBMED_22195554}}

-	~~{{ABSTRACT_PUBMED_22195554}}~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]] Defects in GLA are the cause of Fabry disease (FD) [MIM:[http://omim.org/entry/301500 301500]]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref><ref>PMID:1846223</ref><ref>PMID:2171331</ref><ref>PMID:2539398</ref><ref>PMID:1315715</ref><ref>PMID:7504405</ref><ref>PMID:8395937</ref><ref>PMID:8069316</ref><ref>PMID:7531540</ref><ref>PMID:7575533</ref><ref>PMID:7759078</ref><ref>PMID:7599642</ref><ref>PMID:7596372</ref><ref>PMID:8738659</ref><ref>PMID:8875188</ref><ref>PMID:8834244</ref><ref>PMID:8931708</ref><ref>PMID:8807334</ref><ref>PMID:8863162</ref><ref>PMID:9105656</ref><ref>PMID:9100224</ref><ref>PMID:9554750</ref><ref>PMID:9452068</ref><ref>PMID:9452090</ref><ref>PMID:9452111</ref><ref>PMID:10208848</ref><ref>PMID:10090526</ref><ref>PMID:10838196</ref><ref>PMID:10666480</ref><ref>PMID:11076046</ref><ref>PMID:10916280</ref><ref>PMID:11295840</ref><ref>PMID:11668641</ref><ref>PMID:11889412</ref><ref>PMID:12694230</ref><ref>PMID:12786754</ref><ref>PMID:15162124</ref><ref>PMID:15712228</ref><ref>PMID:16533976</ref><ref>PMID:19621417</ref>

	==About this Structure==		==About this Structure==
Line 14:		Line 13:

	==Reference==		==Reference==
-	<ref group="xtra">PMID:022195554</ref><references group="xtra"/>	+	<ref group="xtra">PMID:022195554</ref><references group="xtra"/><references/>
	[[Category: Alpha-galactosidase]]		[[Category: Alpha-galactosidase]]
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]

OCA at 18:21, 20 October 2012

2012-10-20T18:21:59Z

←Older revision		Revision as of 18:21, 20 October 2012
Line 8:		Line 8:

	==About this Structure==		==About this Structure==
-	[[3s5z]] is a 2 chain structure ~~of [[Galactosidase]]~~ 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=3S5Z OCA].	+	[[3s5z]] is a 2 chain structure 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=3S5Z OCA].

	==See Also==		==See Also==

OCA at 03:51, 27 July 2012

2012-07-27T03:51:29Z

←Older revision		Revision as of 03:51, 27 July 2012
Line 1:		Line 1:
-	[[Image:3s5z.~~jpg~~\|left\|200px]]	+	[[Image:3s5z.png\|left\|200px]]

-	<!--
-	The line below this paragraph, containing "STRUCTURE_3s5z", creates the "Structure Box" on the page.
-	You may change the PDB parameter (which sets the PDB file loaded into the applet)
-	or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-	or leave the SCENE parameter empty for the default display.
-	-->
	{{STRUCTURE_3s5z\| PDB=3s5z \| SCENE= }}		{{STRUCTURE_3s5z\| PDB=3s5z \| SCENE= }}

	===Pharmacological Chaperoning in Human alpha-Galactosidase===		===Pharmacological Chaperoning in Human alpha-Galactosidase===

-
-	<!--
-	The line below this paragraph, {{ABSTRACT_PUBMED_22195554}}, adds the Publication Abstract to the page
-	(as it appears on PubMed at http://www.pubmed.gov), where 22195554 is the PubMed ID number.
-	-->
	{{ABSTRACT_PUBMED_22195554}}		{{ABSTRACT_PUBMED_22195554}}

	==About this Structure==		==About this Structure==
-	[[3s5z]] is a 2 chain structure 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=3S5Z OCA].	+	[[3s5z]] is a 2 chain structure of [[Galactosidase]] 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=3S5Z OCA].
		+
		+	==See Also==
		+	*[[Galactosidase\|Galactosidase]]

	==Reference==		==Reference==

OCA at 06:02, 4 January 2012

2012-01-04T06:02:04Z

←Older revision		Revision as of 06:02, 4 January 2012
Line 1:		Line 1:
-	~~'''Unreleased structure'''~~	+	[[Image:3s5z.jpg\|left\|200px]]

-	The ~~entry 3s5z~~ is ~~ON HOLD~~ ~~until Paper Publication~~	+	<!--
		+	The line below this paragraph, containing "STRUCTURE_3s5z", creates the "Structure Box" on the page.
		+	You may change the PDB parameter (which sets the PDB file loaded into the applet)
		+	or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
		+	or leave the SCENE parameter empty for the default display.
		+	-->
		+	{{STRUCTURE_3s5z\| PDB=3s5z \| SCENE= }}

-	~~Authors: Guce, A.I., Clark, N.E., Garman, S.C.~~	+	===Pharmacological Chaperoning in Human alpha-Galactosidase===

-	~~Description~~: ~~Pharmacological Chaperoning in Human alpha~~-~~Galactosidase~~	+
		+	<!--
		+	The line below this paragraph, {{ABSTRACT_PUBMED_22195554}}, adds the Publication Abstract to the page
		+	(as it appears on PubMed at http://www.pubmed.gov), where 22195554 is the PubMed ID number.
		+	-->
		+	{{ABSTRACT_PUBMED_22195554}}
		+
		+	==About this Structure==
		+	[[3s5z]] is a 2 chain structure 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=3S5Z OCA].
		+
		+	==Reference==
		+	<ref group="xtra">PMID:022195554</ref><references group="xtra"/>
		+	[[Category: Alpha-galactosidase]]
		+	[[Category: Homo sapiens]]
		+	[[Category: Clark, N E.]]
		+	[[Category: Garman, S C.]]
		+	[[Category: Guce, A I.]]
		+	[[Category: Carbohydrate-binding protein]]
		+	[[Category: Glycoprotein]]
		+	[[Category: Glycosidase]]
		+	[[Category: Hydrolase]]
		+	[[Category: Lysosomal enzyme]]
		+	[[Category: Pharmacological chaperone]]