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...

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Detalles Bibliográficos
Autores principales: Marquardt, Thorsten, Bzduch, Vladimir, Hogrebe, Max, Rust, Stephan, Reunert, Janine, Grüneberg, Marianne, Park, Julien, Callewaert, Nico, Lachmann, Robin, Wada, Yoshinao, Engel, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451446/
https://www.ncbi.nlm.nih.gov/pubmed/32884905
http://dx.doi.org/10.1016/j.ymgmr.2020.100636

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