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Details on Person Defective MMAA does not protect MUT
| Class:Id | FailedReaction:3322135 |
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| _displayName | Defective MMAA does not protect MUT |
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| _doRelease | TRUE |
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| _timestamp | 2018-01-19 12:20:06 |
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| authored | [InstanceEdit:3322153] Jassal, Bijay, 2013-05-03 |
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| compartment | [Compartment:5460] mitochondrial matrix |
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| created | [InstanceEdit:3322153] Jassal, Bijay, 2013-05-03 |
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| disease | [Disease:3322156] methylmalonic acidemia |
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| edited | [InstanceEdit:3322153] Jassal, Bijay, 2013-05-03 |
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| entityFunctionalStatus | [EntityFunctionalStatus:3322138] loss_of_function of 2xMMAA mutants:2xMUT [mitochondrial matrix] |
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| input | [Complex:5654974] 2xMMAA mutants:2xMUT [mitochondrial matrix] [Homo sapiens]
[SimpleEntity:3159297] AdoCbl [mitochondrial matrix] |
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| literatureReference | [LiteratureReference:3159280] Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction
[LiteratureReference:3159269] Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype
[LiteratureReference:3159262] Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation
[LiteratureReference:3159263] Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein
[LiteratureReference:3159271] Assembly and protection of the radical enzyme, methylmalonyl-CoA mutase, by its chaperone
[LiteratureReference:3159291] Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements
[LiteratureReference:3159300] Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism |
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| modified | [InstanceEdit:3322969] Jassal, B, 2013-05-08
[InstanceEdit:3325551] Jassal, B, 2013-05-10
[InstanceEdit:3446768] Jassal, B, 2013-05-15
[InstanceEdit:3446771] Jassal, B, 2013-05-15
[InstanceEdit:3968436] Jassal, Bijay, 2013-07-24
[InstanceEdit:4093345] Jassal, B, 2013-08-14
[InstanceEdit:5654973] Jassal, Bijay, 2014-12-04
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9035246] Jassal, Bijay, 2018-01-19
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective MMAA does not protect MUT |
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| normalReaction |
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| releaseDate | 2013-09-18 |
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| reviewed | [InstanceEdit:4093346] Watkins, D, 2013-08-14 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:4545191] R-HSA-3322135.3 |
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| summation | [Summation:3322117] Methylmalonic aciduria type A protein (MMAA) is thought to a... |
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| (hasEvent) | [Pathway:3359475] Defective MMAA causes MMA, cblA type [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9779957] Update Tracker - [FailedReaction:3322135] Defective MMAA does not protect MUT - v64:[add_removeInput]
[_UpdateTracker:9785397] Update Tracker - [FailedReaction:3322135] Defective MMAA does not protect MUT - v52:[add_removeInput] |
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