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Details on Person Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA
| Class:Id | FailedReaction:6785668 |
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| _displayName | Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA |
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| _doRelease | TRUE |
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| _timestamp | 2019-02-25 17:03:43 |
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| authored | [InstanceEdit:6785660] Jassal, Bijay, 2015-06-30 |
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| catalystActivity | [CatalystActivity:9638099] UDP-xylosyltransferase activity of B4GAT1:LARGE mutants [Golgi membrane] |
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| compartment | [Compartment:70101] cytosol
[Compartment:20699] Golgi membrane |
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| created | [InstanceEdit:6785660] Jassal, Bijay, 2015-06-30 |
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| disease | [Disease:6785662] congenital muscular dystrophy |
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| edited | [InstanceEdit:6785660] Jassal, Bijay, 2015-06-30 |
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| entityFunctionalStatus | [EntityFunctionalStatus:6785677] loss_of_function of B4GAT1:LARGE mutants [Golgi membrane] |
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| input | [SimpleEntity:2162232] GlcA [cytosol]
[SimpleEntity:742353] UDP-Xyl [cytosol] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:6785665] Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
[LiteratureReference:5615548] Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
[LiteratureReference:6785669] Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan |
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| modified | [InstanceEdit:6785673] Jassal, Bijay, 2015-06-30
[InstanceEdit:6785906] Jupe, Steve, 2015-07-01
[InstanceEdit:8849757] Jassal, Bijay, 2015-12-17
[InstanceEdit:8849777] Jassal, Bijay, 2015-12-17
[InstanceEdit:8849945] Jassal, Bijay, 2015-12-18
[InstanceEdit:9638095] Jassal, Bijay, 2019-02-25
[InstanceEdit:9638104] Jassal, Bijay, 2019-02-25
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA |
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| normalReaction |
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| releaseDate | 2016-03-23 |
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| releaseStatus | NEW |
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| reviewed | [InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015-12-18 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:8861602] R-HSA-6785668.3 |
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| summation | [Summation:6785674] Glycosyltransferase-like protein LARGE (MIM:603590) is a bif... |
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| (hasEvent) | [Pathway:5083627] Defective LARGE causes MDDGA6 and MDDGB6 [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778631] Update Tracker - [FailedReaction:6785668] Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA - v68:[addCatalystActivity] |
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