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Article

Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter.

International journal of molecular sciences - 30 Dec 2020

Szulc Bożena, Zadorozhna Yelyzaveta, Olczak Mariusz, Wiertelak Wojciech, Maszczak-Seneczko Dorota

Abstract excerpt

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 SLC35A1 gene encoding the CMP-sialic acid transporter (CST) have been reported to date. In this study we examined how specific mutations in the SLC35A1 gene affect the protein's properties in two previously described...

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PMID: 33396746
DOI: 10.3390/ijms22010304
PMCID: PMC7795627

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