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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
Barba C et al.
Developmental Medicine and Child Neurology, 2016
RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.
Aeby A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
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
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).
Vleugels W et al.
Biochimie, 2011
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
Jaeken J et al.
Journal of Inherited Metabolic Disease, 2009
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
Haliloğlu G et al.
The Turkish Journal of Pediatrics, 0
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