Reactome | Willer, T

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created	[InstanceEdit:5617130] Jassal, Bijay, 2014-07-31
dbId	5617132
displayName	Willer, T
firstname	Tobias
initial	T
publications	[LiteratureReference:8931899] The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated ?-dystroglycan functional glycosylation [LiteratureReference:9940680] ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome [LiteratureReference:9940755] The functional O-mannose glycan on ?-dystroglycan contains a phospho-ribitol primed for matriglycan addition [LiteratureReference:8879116] SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function [LiteratureReference:5617139] Xylosyl- and glucuronyltransferase functions of LARGE in ?-dystroglycan modification are conserved in LARGE2 [LiteratureReference:9933085] Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion [LiteratureReference:9940658] An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene [LiteratureReference:8931643] Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan
schemaClass	Person
surname	Willer

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