Associated Papers
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
40569058 (PubMed )
Supplement: keaf353_supplementary_data.zip › keaf353_Supplementary_Data › rhe-24-2575-File009.pdf
Functional role of serine 318 of the proton-coupled folate transporter in methotrexate transport.
Narawa T et al.
Drug Metabolism and Pharmacokinetics, 2021
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.
Zhao R et al.
Molecular Aspects of Medicine, 2017
Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1).
Zhao R et al.
American Journal of Physiology. Cell Physiology, 2012
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
Mahadeo KM et al.
The Journal of Pediatrics, 2011
Random mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of function.
Zhao R et al.
The Journal of Biological Chemistry, 2011
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.
Shin DS et al.
Molecular Genetics and Metabolism, 2011
Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.
Mahadeo K et al.
American Journal of Physiology. Cell Physiology, 2010
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
Meyer E et al.
Molecular Genetics and Metabolism, 2010
Apical membrane targeting and trafficking of the human proton-coupled transporter in polarized epithelia.
Subramanian VS et al.
American Journal of Physiology. Cell Physiology, 2008
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
Zhao R et al.
Blood, 2007
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