A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation

This publication has 19 references indexed in Scilit:

• Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
  The American Journal of Human Genetics, 2021
• Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation
  American Journal of Medical Genetics Part A, 2020
• Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
  Proceedings of the National Academy of Sciences, 2019
• DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation
  The American Journal of Human Genetics, 2012
• Cotranslational and Posttranslational N-Glycosylation of Polypeptides by Distinct Mammalian OST Isoforms
  Cell, 2009
• Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
  The American Journal of Human Genetics, 2008
• A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation
  The American Journal of Human Genetics, 2008
• Oligosaccharyltransferase Isoforms that Contain Different Catalytic STT3 Subunits Have Distinct Enzymatic Properties
  Molecular Cell, 2003
• Photocross-linking of nascent chains to the STT3 subunit of the oligosaccharyltransferase complex
  Journal of Cell Biology, 2003
• STT3, a highly conserved protein required for yeast oligosaccharyl transferase activity in vivo.
  The EMBO Journal, 1995