Reactome | H139Hfs13* PPM1K causes a mild variant of MSUD

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H139Hfs13* PPM1K causes a mild variant of MSUD Show undefined attributes

authored	[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
created	[InstanceEdit:9912530] Rothfels, Karen, 2024-06-08
crossReference	[DatabaseIdentifier:12020927] Mondo:0009563
dbId	9912529
disease	[Disease:9865030] maple syrup urine disease
displayName	H139Hfs13* PPM1K causes a mild variant of MSUD
edited	[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
eventOf	[Pathway:R-HSA-9865114] Maple Syrup Urine Disease - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9912527] H139Hfs13* PPM1K does not dephosphorylate BCKDH - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9912493] A novel mitochondrial matrix serine/threonine protein phosphatase regulates the mitochondria permeability transition pore and is essential for cellular survival and development [LiteratureReference:9912505] Functional characterization of a mitochondrial Ser/Thr protein phosphatase in cell death regulation [LiteratureReference:9912503] Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells [LiteratureReference:9912510] Tissue-specific and nutrient regulation of the branched-chain ?-keto acid dehydrogenase phosphatase, protein phosphatase 2Cm (PP2Cm) [LiteratureReference:5693140] Structural and biochemical characterization of human mitochondrial branched-chain ?-ketoacid dehydrogenase phosphatase [LiteratureReference:9864958] Maple Syrup Urine Disease [LiteratureReference:9912490] Branched-Chain Amino Acids Metabolism and Their Roles in Retinopathy: From Relevance to Mechanism [LiteratureReference:9912496] A novel regulatory defect in the branched-chain ?-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease
maxDepth	2
modified	[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
name	H139Hfs13* PPM1K causes a mild variant of MSUD
normalPathway	[Pathway:R-HSA-70895] Branched-chain amino acid catabolism
previousReviewStatus	[ReviewStatus:9821383] three stars
releaseDate	2024-09-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9918941] D'Eustachio, Peter, 2024-08-18
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9912529
summation	[Summation:9912531] PPM1K is a mitochondrial protein phosphatase that removes th...

Referrals

(hasEvent)

[Pathway:R-HSA-9865114] Maple Syrup Urine Disease