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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.
Afiliación
  • Marquardt T; University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
  • Bzduch V; Comenius University, National Institute of Children's Diseases, Department of Paediatrics, Limbová 1, 83340 Bratislava, Slovakia.
  • Hogrebe M; University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
  • Rust S; University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
  • Reunert J; University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
  • Grüneberg M; University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
  • Park J; University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
  • Callewaert N; Medical Biotechnology lab, Center for Medical Biotechnology, Technologiepark 71, B-9052 Gent-Zwijnaarde, Belgium.
  • Lachmann R; Charles Dent Metabolic Unit Box 92, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Wada Y; Osaka Women's and Children's Hospital, Osaka, Japan.
  • Engel T; University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
Mol Genet Metab Rep ; 25: 100636, 2020 Dec.
Article en En | MEDLINE | ID: mdl-32884905
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2020 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2020 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos