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Details on Person Defective ARSB does not hydrolyse C4S/C6S chains

Class:IdFailedReaction:2282889
_displayNameDefective ARSB does not hydrolyse C4S/C6S chains
_doReleaseTRUE
_timestamp2018-01-29 15:14:15
authored[InstanceEdit:2282887] Jassal, B, 2012-05-28
catalystActivity[CatalystActivity:9631784] N-acetylgalactosamine-4-sulfatase activity of ARSB mutants:Ca2+ [lysosomal lumen]
compartment[Compartment:161320] lysosomal lumen
created[InstanceEdit:2282887] Jassal, B, 2012-05-28
disease[Disease:2326770] mucopolysaccharidosis VI
edited[InstanceEdit:2282887] Jassal, B, 2012-05-28
entityFunctionalStatus[EntityFunctionalStatus:2282890] loss_of_function of ARSB mutants:Ca2+ [lysosomal lumen]
input[SimpleEntity:1605715] H2O [lysosomal lumen]
[DefinedSet:2065251] C4S/C6S chains [lysosomal lumen]
isChimericFALSE
literatureReference[LiteratureReference:2314594] Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy
[LiteratureReference:2314599] Maroteaux-lamy syndrome: five novel mutations and their structural localization
[LiteratureReference:2314582] Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity
[LiteratureReference:2314581] Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes
[LiteratureReference:2314580] Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
modified[InstanceEdit:2314587] Jassal, B, 2012-06-07
[InstanceEdit:2318591] Jassal, B, 2012-06-14
[InstanceEdit:2318607] Jassal, B, 2012-06-14
[InstanceEdit:2318608] Jassal, B, 2012-06-14
[InstanceEdit:2318609] Jassal, B, 2012-06-14
[InstanceEdit:2326769] Jassal, B, 2012-06-19
[InstanceEdit:2428935] Jassal, B, 2012-08-09
[InstanceEdit:2454166] Jassal, B, 2012-08-22
[InstanceEdit:2457601] Jassal, B, 2012-08-24
[InstanceEdit:2457639] Jassal, B, 2012-08-27
[InstanceEdit:2457642] Jassal, B, 2012-08-27
[InstanceEdit:2457648] Jassal, B, 2012-08-27
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9036066] Jassal, Bijay, 2018-01-29
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective ARSB does not hydrolyse C4S/C6S chains
normalReaction
releaseDate2012-09-18
reviewed[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27
[InstanceEdit:2457645] Alves, Sandra, 2012-08-27
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:2465015] R-HSA-2282889.4
summation[Summation:2314579] Arylsulfatase B using calcium cofactor (ARSB:Ca2+) hydrolys...
(hasEvent)[Pathway:2206285] MPS VI - Maroteaux-Lamy syndrome [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778212] Update Tracker - [FailedReaction:2282889] Defective ARSB does not hydrolyse C4S/C6S chains - v68:[addCatalystActivity]
[_UpdateTracker:9779721] Update Tracker - [FailedReaction:2282889] Defective ARSB does not hydrolyse C4S/C6S chains - v64:[add_removeInput, modifyText]
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