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Details on Person Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate
| Class:Id | FailedReaction:2263490 |
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| _displayName | Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate |
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| _doRelease | TRUE |
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| _timestamp | 2018-01-30 10:17:41 |
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| authored | [InstanceEdit:2263489] Jassal, B, 2012-05-21 |
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| catalystActivity | [CatalystActivity:9631848] N-acetylgalactosamine-6-sulfatase activity of GALNS mutants [lysosomal lumen] |
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| compartment | [Compartment:161320] lysosomal lumen |
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| created | [InstanceEdit:2263489] Jassal, B, 2012-05-21 |
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| disease | [Disease:2226063] mucopolysaccharidosis IV |
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| edited | [InstanceEdit:2263489] Jassal, B, 2012-05-21 |
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| entityFunctionalStatus | [EntityFunctionalStatus:2263498] loss_of_function of GALNS mutants [lysosomal lumen] |
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| input | [SimpleEntity:2105007] Gal(S)-GlcNAc(S)-Gal-GlcNAc(S)-Gal [lysosomal lumen]
[SimpleEntity:1605715] H2O [lysosomal lumen] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:1638077] Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A) |
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| 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:2428935] Jassal, B, 2012-08-09
[InstanceEdit:2454166] Jassal, B, 2012-08-22
[InstanceEdit:2457642] Jassal, B, 2012-08-27
[InstanceEdit:2457648] Jassal, B, 2012-08-27
[InstanceEdit:2581471] Jassal, Bijay, 2012-11-13
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9036090] Jassal, Bijay, 2018-01-30
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate |
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| normalReaction |
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| releaseDate | 2012-09-18 |
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| reviewed | [InstanceEdit:2457644] Coutinho, Maria, 2012-08-27
[InstanceEdit:2457645] Alves, Sandra, 2012-08-27 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:2464980] R-HSA-2263490.4 |
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| summation | [Summation:2263499] From a recent review of mutations for MPSIVA (MIM:253000) (T... |
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| (hasEvent) | [Pathway:2206290] MPS IV - Morquio syndrome A [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9777921] Update Tracker - [FailedReaction:2263490] Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate - v68:[addCatalystActivity] |
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