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Details on Person Defective SGSH does not hydrolyse Heparan sulfate chain(2)

Class:Id	FailedReaction:9036050
_displayName	Defective SGSH does not hydrolyse Heparan sulfate chain(2)
_doRelease	TRUE
_timestamp	2018-01-29 13:46:52
authored	[InstanceEdit:2263452] Jassal, B, 2012-05-21
catalystActivity	[CatalystActivity:9631816] N-sulfoglucosamine sulfohydrolase activity of SGSH mutants:Ca2+ [lysosomal lumen]
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2263452] Jassal, B, 2012-05-21
disease	[Disease:2226064] mucopolysaccharidosis III
edited	[InstanceEdit:2263452] Jassal, B, 2012-05-21
entityFunctionalStatus	[EntityFunctionalStatus:2263454] loss_of_function of SGSH mutants:Ca2+ [lysosomal lumen]
input	[SimpleEntity:1605715] H2O [lysosomal lumen] [SimpleEntity:1605715] H2O [lysosomal lumen] [SimpleEntity:2090072] GlcNS6S-IdoAS2-GlcNS3S- group [lysosomal lumen]
isChimeric	FALSE
literatureReference	[LiteratureReference:2216749] Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A) [LiteratureReference:2216741] Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations [LiteratureReference:2216740] Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients [LiteratureReference:1678607] Novel mutations in Sanfilippo A syndrome: implications for enzyme function
modified	[InstanceEdit:2318591] Jassal, B, 2012-06-14 [InstanceEdit:2318607] Jassal, B, 2012-06-14 [InstanceEdit:2318608] Jassal, B, 2012-06-14 [InstanceEdit:2318609] Jassal, B, 2012-06-14 [InstanceEdit:2326769] Jassal, B, 2012-06-19 [InstanceEdit:2428935] Jassal, B, 2012-08-09 [InstanceEdit:2454166] Jassal, B, 2012-08-22 [InstanceEdit:2457642] Jassal, B, 2012-08-27 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SGSH does not hydrolyse Heparan sulfate chain(2)
normalReaction	[Reaction:1678708] SGSH hydrolyses Heparan sulfate chain(2) [Homo sapiens]
releaseDate	2012-09-18
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27 [InstanceEdit:2457646] Matos, Liliana, 2012-08-27
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9036051] R-HSA-9036050.3
summation	[Summation:9036048] MPS IIIA (Sanfilippo syndrome A, mucopolysaccharidosis IIIA,...
(hasEvent)	[Pathway:2206307] MPS IIIA - Sanfilippo syndrome A [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778426] Update Tracker - [FailedReaction:9036050] Defective SGSH does not hydrolyse Heparan sulfate chain(2) - v68:[addCatalystActivity]
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