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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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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author Marquardt, Thorsten
Bzduch, Vladimir
Hogrebe, Max
Rust, Stephan
Reunert, Janine
Grüneberg, Marianne
Park, Julien
Callewaert, Nico
Lachmann, Robin
Wada, Yoshinao
Engel, Thomas
author_facet Marquardt, Thorsten
Bzduch, Vladimir
Hogrebe, Max
Rust, Stephan
Reunert, Janine
Grüneberg, Marianne
Park, Julien
Callewaert, Nico
Lachmann, Robin
Wada, Yoshinao
Engel, Thomas
author_sort Marquardt, Thorsten
collection PubMed
description 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 generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease.
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spelling pubmed-74514462020-09-02 SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation Marquardt, Thorsten Bzduch, Vladimir Hogrebe, Max Rust, Stephan Reunert, Janine Grüneberg, Marianne Park, Julien Callewaert, Nico Lachmann, Robin Wada, Yoshinao Engel, Thomas Mol Genet Metab Rep Research Paper 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 generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease. Elsevier 2020-08-21 /pmc/articles/PMC7451446/ /pubmed/32884905 http://dx.doi.org/10.1016/j.ymgmr.2020.100636 Text en © 2020 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Research Paper
Marquardt, Thorsten
Bzduch, Vladimir
Hogrebe, Max
Rust, Stephan
Reunert, Janine
Grüneberg, Marianne
Park, Julien
Callewaert, Nico
Lachmann, Robin
Wada, Yoshinao
Engel, Thomas
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
title SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
title_full SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
title_fullStr SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
title_full_unstemmed SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
title_short SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
title_sort slc37a4-cdg: mislocalization of the glucose-6-phosphate transporter to the golgi causes a new congenital disorder of glycosylation
topic Research Paper
url 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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