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Details on Person Defective ALDOB does not cleave Fru 1-P to GA and DHAP

Class:IdFailedReaction:5656438
_displayNameDefective ALDOB does not cleave Fru 1-P to GA and DHAP
_doReleaseTRUE
_timestamp2015-08-17 21:55:12
authored[InstanceEdit:5668966] D'Eustachio, Peter, 2015-01-29
catalystActivity[CatalystActivity:9631907] fructose-1-phosphate aldolase activity of ALDOB mutant proteins [cytosol]
compartment[Compartment:70101] cytosol
created[InstanceEdit:5656453] D'Eustachio, Peter, 2014-12-12
disease[Disease:5656451] hereditary fructose intolerance syndrome
edited[InstanceEdit:5668966] D'Eustachio, Peter, 2015-01-29
entityFunctionalStatus[EntityFunctionalStatus:5656442] loss_of_function of ALDOB mutant proteins [cytosol]
input[SimpleEntity:31221] Fru 1-P [cytosol]
isChimericFALSE
literatureReference[LiteratureReference:5675300] Hereditary fructose intolerance
[LiteratureReference:5675313] Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population
[LiteratureReference:5656437] Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation
[LiteratureReference:5675278] Molecular analysis of aldolase B genes in hereditary fructose intolerance
[LiteratureReference:5675797] Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion
[LiteratureReference:5675282] The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance
[LiteratureReference:5675324] Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance
[LiteratureReference:5675816] Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy
[LiteratureReference:5675318] Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans
[LiteratureReference:5656447] Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis
[LiteratureReference:469704] Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene
modified[InstanceEdit:5668911] Jassal, Bijay, 2015-01-29
[InstanceEdit:5668966] D'Eustachio, Peter, 2015-01-29
[InstanceEdit:5674543] D'Eustachio, Peter, 2015-02-12
[InstanceEdit:5675277] D'Eustachio, Peter, 2015-02-15
[InstanceEdit:5675813] D'Eustachio, Peter, 2015-02-16
[InstanceEdit:5675822] D'Eustachio, Peter, 2015-02-16
[InstanceEdit:6791053] D'Eustachio, Peter, 2015-08-17
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective ALDOB does not cleave Fru 1-P to GA and DHAP
normalReaction
releaseDate2015-03-19
reviewed[InstanceEdit:5675821] Timson, David J, Tolan, Dean R, 2015-02-16
[InstanceEdit:5668911] Jassal, Bijay, 2015-01-29
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5680233] R-HSA-5656438.4
summation[Summation:5656446] Mutations in ALDOB that cause deficiency of aldolase B block...
(hasEvent)[Pathway:5657560] Hereditary fructose intolerance [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778326] Update Tracker - [FailedReaction:5656438] Defective ALDOB does not cleave Fru 1-P to GA and DHAP - v68:[addCatalystActivity]
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