Novel Insights into Selected Disease-Causing Mutations within the <i>SLC35A1</i> Gene Encoding the CMP-Sialic Acid Transporter

Novel Insights into Selected Disease-Causing Mutations within the <i>SLC35A1</i> Gene Encoding the CMP-Sialic Acid Transporter

Congenital disorders of glycosylation (CDG) are a group of rare genetic and metabolic diseases caused by alterations in glycosylation pathways. Five patients bearing CDG-causing mutations in the <i>SLC35A1</i> gene encoding the CMP-sialic acid transporter (CST) have been reported to date...

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Bibliographic Details
Main Authors: Bożena Szulc, Yelyzaveta Zadorozhna, Mariusz Olczak, Wojciech Wiertelak, Dorota Maszczak-Seneczko
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
CMP-sialic acid transporter
sialylation
congenital disorder of glycosylation
mutation
Golgi apparatus
lectin
Online Access:https://www.mdpi.com/1422-0067/22/1/304

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