Reactome | MPS IV - Morquio syndrome B

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MPS IV - Morquio syndrome B Show undefined attributes

authored	[InstanceEdit:2206283] Jassal, B, 2012-04-26
created	[InstanceEdit:2206283] Jassal, B, 2012-04-26
dbId	2206308
disease	[Disease:2226052] mucopolysaccharidosis
displayName	MPS IV - Morquio syndrome B
edited	[InstanceEdit:2206283] Jassal, B, 2012-04-26
eventOf	[Pathway:R-HSA-2206281] Mucopolysaccharidoses - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-2265534] Defective GLB1 does not hydrolyse a glycosaminoglycan - Homo sapiens [FailedReaction:R-HSA-9036061] Defective GLB1 does not hydrolyse linker chain(2) - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2252629] GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients [Book:2252627] Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease 0079130356 Scriver, CR The Metabolic and Molecular Bases of Inherited Disease, 8th ed [LiteratureReference:2457672] Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein [LiteratureReference:2458253] Cloning, sequencing, and expression of cDNA for human beta-galactosidase [LiteratureReference:2458302] Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America [LiteratureReference:2458259] Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	MPS IV - Morquio syndrome B
normalPathway	[Pathway:R-HSA-1630316] Glycosaminoglycan metabolism
releaseDate	2012-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-2206308
summation	[Summation:2252625] Defects in beta-galactosidase (GLB1; MIM:611458) can result ...

Referrals

(hasEvent)

[Pathway:R-HSA-2206281] Mucopolysaccharidoses