ArticleAmerican journal of human genetics2008
Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 68 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Proposed mechanism for Rft1-mediated scrambling of a dolichol-linked oligosaccharide.bioRxiv : the preprint server for biology · 2025Article
- An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.Orphanet journal of rare diseases · 2025Article
- Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.bioRxiv : the preprint server for biology · 2024Article
- Structural and mechanistic studies of the N-glycosylation machinery: from lipid-linked oligosaccharide biosynthesis to glycan transfer.Glycobiology · 2023Review
- Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.HGG advances · 2023Article
- Comparative Multiplexed Interactomics of SARS-CoV-2 and Homologous Coronavirus Nonstructural Proteins Identifies Unique and Shared Host-Cell Dependencies.ACS infectious diseases · 2020Article
- Comparative multiplexed interactomics of SARS-CoV-2 and homologous coronavirus non-structural proteins identifies unique and shared host-cell dependencies.bioRxiv : the preprint server for biology · 2020Article
- The impact of short tandem repeat variation on gene expression.Nature genetics · 2019Article
- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.JIMD reports · 2019Article
- RFT1 Protein Affects Glycosylphosphatidylinositol (GPI) Anchor Glycosylation.The Journal of biological chemistry · 2017Article
- ALG11-CDG: Three novel mutations and further characterization of the phenotype.Molecular genetics and metabolism reports · 2015Article
- Genetic defects in dolichol metabolism.Journal of inherited metabolic disease · 2015Review
- Amino acids regulate transgene expression in MDCK cells.PloS one · 2014Article
- Comparative Analysis of Protein Glycosylation Pathways in Humans and the Fungal Pathogen Candida albicans.International journal of microbiology · 2014Review
- Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycoconjugate journal · 2013Review
- Protein secretion and the endoplasmic reticulum.Cold Spring Harbor perspectives in biology · 2012Review
- Congenital protein hypoglycosylation diseases.The application of clinical genetics · 2012Article
- Congenital disorders of glycosylation (CDG): it's (nearly) all in it!Journal of inherited metabolic disease · 2011Review
- Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.The Journal of biological chemistry · 2011Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
N-linked glycosylation is an essential posttranslational modification of proteins in eukaryotes. The substrate of N-linked glycosylation, dolichol pyrophosphate (DolPP)-GlcNAc(2)Man(9)Glc(3), is assembled through a complex series of ordered reactions requiring the translocation of the intermediate DolPP-GlcNAc(2)Man(5) structure across the endoplasmic-reticulum membrane. A young patient diagnosed with a congenital disorder of glycosylation characterized by an intracellular accumulation of DolPP-GlcNAc(2)Man(5) was found to carry a homozygous point mutation in the RFT1 gene. The c.199C-->T mutation introduced the amino acid substitution p.R67C. The human RFT1 protein shares 22% identity with its yeast ortholog, which is involved in the translocation of DolPP-GlcNAc(2)Man(5) from the cytosolic into the lumenal side of the endoplasmic reticulum. Despite the low sequence similarity between the yeast and the human RFT1 proteins, we demonstrated both their functional orthology and the pathologic effect of the human p.R67C mutation by complementation assay in Deltarft1 yeast cells. The causality of the RFT1 p.R67C mutation was further established by restoration of normal glycosylation profiles in patient-derived fibroblasts after lentiviral expression of a normal RFT1 cDNA. The definition of the RFT1 defect establishes the functional conservation of the DolPP-GlcNAc(2)Man(5) translocation process in eukaryotes. RFT1 deficiency in both yeast and human cells leads to the accumulation of incomplete DolPP-GlcNAc(2)Man(5) and to a profound glycosylation disorder in humans.
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