Associated Papers
Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.
Hirata E et al.
The Journal of Biological Chemistry, 2024
Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.
Hirata E et al.
Biorxiv : the Preprint Server for Biology, 2024
Structural and mechanistic studies of the N-glycosylation machinery: from lipid-linked oligosaccharide biosynthesis to glycan transfer.
Ramírez AS et al.
Glycobiology, 2023
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.
Abiramalatha T et al.
European Journal of Medical Genetics, 2019
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.
Quelhas D et al.
Jimd Reports, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
RFT1-CDG in adult siblings with novel mutations.
Ondruskova N et al.
Molecular Genetics and Metabolism, 2012
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Jones MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).
Vleugels W et al.
Biochimie, 2011
Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
Haeuptle MA et al.
American Journal of Human Genetics, 2008
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