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Details on Person BCKDK loss-of-function mutations do not phosphorylate BCKDH

Class:IdFailedReaction:9912480
_displayNameBCKDK loss-of-function mutations do not phosphorylate BCKDH
_doReleaseTRUE
_timestamp2024-08-18 18:17:51
authored[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
catalystActivity[CatalystActivity:9912478] [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity of BCKDK mutant dimers [mitochondrial matrix]
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9912479] Rothfels, Karen, 2024-06-08
disease[Disease:9912464] branched-chain keto acid dehydrogenase kinase deficiency
edited[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
entityFunctionalStatus[EntityFunctionalStatus:9912482] loss_of_function of BCKDK mutant dimers [mitochondrial matrix]
input[SimpleEntity:113593] ATP [mitochondrial matrix]
[SimpleEntity:113593] ATP [mitochondrial matrix]
[Complex:70019] BCKDH [mitochondrial matrix] [Homo sapiens]
internalReviewed[InstanceEdit:9917135] Stephan, Ralf, 2024-07-30
isChimericFALSE
literatureReference[LiteratureReference:5693166] Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients
[LiteratureReference:5693126] Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
[LiteratureReference:9912416] BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
modified[InstanceEdit:9912522] Rothfels, Karen, 2024-06-08
[InstanceEdit:9916983] Rothfels, Karen, 2024-07-29
[InstanceEdit:9917205] Rothfels, Karen, 2024-07-31
[InstanceEdit:9917785] Rothfels, Karen, 2024-08-13
[InstanceEdit:9917787] Rothfels, Karen, 2024-08-13
[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
nameBCKDK loss-of-function mutations do not phosphorylate BCKDH
normalReaction
previousReviewStatus[ReviewStatus:9821383] three stars
releaseDate2024-09-11
reviewed[InstanceEdit:9918941] D'Eustachio, Peter, 2024-08-18
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9912483] R-HSA-9912480.1
summation[Summation:9912459] Mutations in branched-chain ketoacid dehydrogenase kinase (B...
(hasEvent)[Pathway:9912481] Branched-chain ketoacid dehydrogenase kinase deficiency [Homo sapiens]
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