Reactome | Loss-of-function DLD mutants don't dehydrogenate dihydrolipoyl DBT

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Loss-of-function DLD mutants don't dehydrogenate dihydrolipoyl DBT Show undefined attributes

authored	[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
catalystActivity	[CatalystActivity:9907573] dihydrolipoyl dehydrogenase (NADH) activity of DLD mutant-BCKDH [mitochondrial matrix]
category	transition
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9907571] Rothfels, Karen, 2024-04-12
crossReference	[DatabaseIdentifier:12020927] Mondo:0009563
dbId	9907572
disease	[Disease:9865030] maple syrup urine disease
displayName	Loss-of-function DLD mutants don't dehydrogenate dihydrolipoyl DBT
edited	[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
entityFunctionalStatus	[EntityFunctionalStatus:9907589] loss_of_function of DLD mutant-BCKDH [mitochondrial matrix]
eventOf	[Pathway:R-HSA-9907570] Loss-of-function mutations in DLD cause MSUD3/DLDD - Homo sapiens
input	[EntityWithAccessionedSequence:R-HSA-9859167] LipoH2-K105-DBT [mitochondrial matrix] [SimpleEntity:R-ALL-113526] NAD+ [mitochondrial matrix]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9864958] Maple Syrup Urine Disease [LiteratureReference:9907662] Dihydrolipoamide Dehydrogenase Deficiency [LiteratureReference:9907673] Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency [LiteratureReference:9907676] Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain [LiteratureReference:9907688] Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity [LiteratureReference:9907686] Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency [LiteratureReference:9907654] Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing [LiteratureReference:9907665] Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency [LiteratureReference:9907693] Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex
maxDepth	1
modified	[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
name	Loss-of-function DLD mutants don't dehydrogenate dihydrolipoyl DBT
normalReaction	[Reaction:R-HSA-9859172] DLD dimer dehydrogenates dihydrolipoyl
previousReviewStatus	[ReviewStatus:9821383] three stars
releaseDate	2024-09-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9918941] D'Eustachio, Peter, 2024-08-18
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9907572
summation	[Summation:9907695] Loss-of-function mutations in DLD are associated with Maple ...

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[Pathway:R-HSA-9907570] Loss-of-function mutations in DLD cause MSUD3/DLDD

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