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Details on Person Defective ARSB does not hydrolyse C4S/C6S chains
| Class:Id | FailedReaction:2282889 |
| _displayName | Defective ARSB does not hydrolyse C4S/C6S chains |
| _doRelease | TRUE |
| _timestamp | 2018-01-29 15:14:15 |
| authored | [InstanceEdit:2282887] Jassal, B, 2012-05-28 |
| catalystActivity | [CatalystActivity:9631784] N-acetylgalactosamine-4-sulfatase activity of ARSB mutants:Ca2+ [lysosomal lumen] |
| compartment | [Compartment:161320] lysosomal lumen |
| created | [InstanceEdit:2282887] Jassal, B, 2012-05-28 |
| disease | [Disease:2326770] mucopolysaccharidosis VI |
| edited | [InstanceEdit:2282887] Jassal, B, 2012-05-28 |
| entityFunctionalStatus | [EntityFunctionalStatus:2282890] loss_of_function of ARSB mutants:Ca2+ [lysosomal lumen] |
| input | [SimpleEntity:1605715] H2O [lysosomal lumen] [DefinedSet:2065251] C4S/C6S chains [lysosomal lumen] |
| isChimeric | FALSE |
| literatureReference | [LiteratureReference:2314594] Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy [LiteratureReference:2314599] Maroteaux-lamy syndrome: five novel mutations and their structural localization [LiteratureReference:2314582] Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity [LiteratureReference:2314581] Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes [LiteratureReference:2314580] Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients |
| modified | [InstanceEdit:2314587] Jassal, B, 2012-06-07 [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:2457601] Jassal, B, 2012-08-24 [InstanceEdit:2457639] Jassal, B, 2012-08-27 [InstanceEdit:2457642] Jassal, B, 2012-08-27 [InstanceEdit:2457648] Jassal, B, 2012-08-27 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:9036066] Jassal, Bijay, 2018-01-29 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
| name | Defective ARSB does not hydrolyse C4S/C6S chains |
| normalReaction |
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| releaseDate | 2012-09-18 |
| reviewed | [InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27 |
| reviewStatus | [ReviewStatus:9821382] five stars |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:2465015] R-HSA-2282889.4 |
| summation | [Summation:2314579] Arylsulfatase B using calcium cofactor (ARSB:Ca2+) hydrolys... |
| (hasEvent) | [Pathway:2206285] MPS VI - Maroteaux-Lamy syndrome [Homo sapiens] |
| (updatedInstance) | [_UpdateTracker:9778212] Update Tracker - [FailedReaction:2282889] Defective ARSB does not hydrolyse C4S/C6S chains - v68:[addCatalystActivity] [_UpdateTracker:9779721] Update Tracker - [FailedReaction:2282889] Defective ARSB does not hydrolyse C4S/C6S chains - v64:[add_removeInput, modifyText] |
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