Reactome | Defective SGSH does not hydrolyse Heparan sulfate chain(7)

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Defective SGSH does not hydrolyse Heparan sulfate chain(7) Show undefined attributes

authored	[InstanceEdit:2263452] Jassal, B, 2012-05-21
catalystActivity	[CatalystActivity:9631908] N-sulfoglucosamine sulfohydrolase activity of SGSH mutants [lysosomal lumen]
category	transition
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2263452] Jassal, B, 2012-05-21
dbId	2263444
disease	[Disease:2226064] mucopolysaccharidosis III
displayName	Defective SGSH does not hydrolyse Heparan sulfate chain(7)
edited	[InstanceEdit:2263452] Jassal, B, 2012-05-21
entityFunctionalStatus	[EntityFunctionalStatus:2263454] loss_of_function of SGSH mutants [lysosomal lumen]
eventOf	[Pathway:R-HSA-2206307] MPS IIIA - Sanfilippo syndrome A - Homo sapiens
input	2 × [SimpleEntity:R-ALL-1605715] H2O [lysosomal lumen] [SimpleEntity:R-ALL-2090070] Heparan sulfate chain(7) [lysosomal lumen]
isChimeric	false
isInDisease	true
isInferred	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:9830342] Matthews, Lisa, 2023-03-08
name	Defective SGSH does not hydrolyse Heparan sulfate chain(7)
normalReaction	[Reaction:R-HSA-2090043] SGSH hydrolyses Heparan sulfate chain(7)
releaseDate	2012-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27 [InstanceEdit:2457646] Matos, Liliana, 2012-08-27
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-2263444
summation	[Summation:2216745] MPS IIIA (Sanfilippo syndrome A, mucopolysaccharidosis IIIA,...

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[Pathway:R-HSA-2206307] MPS IIIA - Sanfilippo syndrome A

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