SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention signal of the transporter and...

Полное описание

Библиографические подробности

Главные авторы:	Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Elsevier 2020-12-01
Серии:	Molecular Genetics and Metabolism Reports
Предметы:	CDG Glycosylation Glycogen storage disease SLC37A4
Online-ссылка:	http://www.sciencedirect.com/science/article/pii/S2214426920300823
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