Associated Papers
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
He N et al.
Clinical and Translational Medicine, 2023
37264743 (PubMed )
Supplement: CTM2-13-e1289-s002.docx
The role of HCFC1 in syndromic and non-syndromic intellectual disability.
Castro VL et al.
Medical Research Archives, 2020
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
Koufaris C et al.
Biomedical Reports, 2016
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
Gérard M et al.
European Journal of Medical Genetics, 2015
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L et al.
American Journal of Human Genetics, 2012
Select a paper to view details