Functional Classification of DDOST Variants of Uncertain Clinical Significance in Congenital Disorders of Glycosylation
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ABSTRACT: identification of OST48 as a transient inetactor of lysyl oxidase (LOX)OST48 is a non catalytic component of the OST complex which transfers glycans to substrate proteins. OST48 is encoded by DDOST.43 cariants of DDOST are described in CDG patients
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Brain, Breast Epithelium, Cell Culture, Early Embryonic Cell
DISEASE(S): Congenital Disorder Of Glycosylation Type Ii
SUBMITTER: Duncan Smith
LAB HEAD: Duncan Leonard Smith
PROVIDER: PXD042959 | Pride | 2023-10-18
REPOSITORIES: Pride
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