Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Details on Person Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

Class:Id	FailedReaction:3322971
_displayName	Defective MUT does not isomerise L-MM-CoA to SUCC-CoA
_doRelease	TRUE
_timestamp	2021-12-13 17:18:43
authored	[InstanceEdit:3322969] Jassal, B, 2013-05-08
catalystActivity	[CatalystActivity:9631969] methylmalonyl-CoA mutase activity of 2xMMAA:mutant MUT:AdoCbl [mitochondrial matrix]
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:3322969] Jassal, B, 2013-05-08
disease	[Disease:9759773] methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
edited	[InstanceEdit:3322969] Jassal, B, 2013-05-08
entityFunctionalStatus	[EntityFunctionalStatus:3323128] loss_of_function of 2xMMAA:mutant MUT:AdoCbl [mitochondrial matrix]
input	[SimpleEntity:71009] L-MM-CoA [mitochondrial matrix]
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:3323177] Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia [LiteratureReference:3323159] Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning [LiteratureReference:3323108] Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation [LiteratureReference:3323141] Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations [LiteratureReference:3323110] Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria [LiteratureReference:3323174] N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients [LiteratureReference:3323118] Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene [LiteratureReference:3323163] Mutation analysis of the MCM gene in Israeli patients with mut(0) disease [LiteratureReference:3323148] Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
modified	[InstanceEdit:3323152] Jassal, B, 2013-05-09 [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:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:9013316] Jassal, Bijay, 2017-07-24 [InstanceEdit:9036087] Jassal, Bijay, 2018-01-30 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9759776] D'Eustachio, Peter, 2021-12-13 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective MUT does not isomerise L-MM-CoA to SUCC-CoA
normalReaction	[Reaction:71010] MUT isomerises L-MM-CoA to SUCC-CoA [Homo sapiens]
releaseDate	2013-09-18
reviewed	[InstanceEdit:4093346] Watkins, D, 2013-08-14
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:4545101] R-HSA-3322971.6
summation	[Summation:3322970] Methylmalonyl CoA mutase (MUT aka MCM) (Jansen et al. 1989) ...
(hasEvent)	[Pathway:3359478] Defective MUT causes MMAM [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778411] Update Tracker - [FailedReaction:3322971] Defective MUT does not isomerise L-MM-CoA to SUCC-CoA - v68:[addCatalystActivity] [_UpdateTracker:9780101] Update Tracker - [FailedReaction:3322971] Defective MUT does not isomerise L-MM-CoA to SUCC-CoA - v64:[removeInput] [_UpdateTracker:9780550] Update Tracker - [FailedReaction:3322971] Defective MUT does not isomerise L-MM-CoA to SUCC-CoA - v62:[add_removeInput]
[Change default viewing format]

No pathways have been reviewed or authored by Defective MUT does not isomerise L-MM-CoA to SUCC-CoA (3322971)