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Details on Person Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P

Class:Id	FailedReaction:5659989
_displayName	Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P
_doRelease	TRUE
_timestamp	2019-01-04 20:45:15
authored	[InstanceEdit:6791059] D'Eustachio, Peter, 2015-08-18
catalystActivity	[CatalystActivity:9631785] transaldolase activity of TALDO1 mutant dimers [cytosol]
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5659984] D'Eustachio, Peter, 2015-01-02
disease	[Disease:5656463] carbohydrate metabolic disorder
edited	[InstanceEdit:6791059] D'Eustachio, Peter, 2015-08-18
entityFunctionalStatus	[EntityFunctionalStatus:5660006] loss_of_function of TALDO1 mutant dimers [cytosol]
input	[SimpleEntity:29578] GA3P [cytosol] [SimpleEntity:29882] SH7P [cytosol]
isChimeric	FALSE
literatureReference	[LiteratureReference:5659981] Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype [LiteratureReference:5659993] Novel association of early onset hepatocellular carcinoma with transaldolase deficiency [LiteratureReference:71326] Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. [LiteratureReference:5659986] A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency [LiteratureReference:469689] The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review [LiteratureReference:5659994] Transaldolase deficiency in a two-year-old boy with cirrhosis
modified	[InstanceEdit:5668911] Jassal, Bijay, 2015-01-29 [InstanceEdit:5668962] D'Eustachio, Peter, 2015-01-29 [InstanceEdit:5674549] D'Eustachio, Peter, 2015-02-12 [InstanceEdit:5678295] D'Eustachio, Peter, 2015-02-23 [InstanceEdit:5678586] D'Eustachio, Peter, 2015-02-24 [InstanceEdit:6791053] D'Eustachio, Peter, 2015-08-17 [InstanceEdit:6791058] D'Eustachio, Peter, 2015-08-18 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9634083] D'Eustachio, Peter, 2019-01-04 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P
normalReaction	[Reaction:71334] sedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate <=> D-erythrose 4-phosphate + D-fructose 6-phosphate [Homo sapiens]
releaseDate	2015-09-22
releaseStatus	NEW
reviewed	[InstanceEdit:6791056] Jassal, Bijay, 2015-08-18
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:6797177] R-HSA-5659989.3
summation	[Summation:5659988] Defective TALDO1 (transaldolase 1) fails to transform sedohe...
(hasEvent)	[Pathway:6791055] TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778365] Update Tracker - [FailedReaction:5659989] Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P - v68:[addCatalystActivity]
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