Citations for
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.
Shin DS, Mahadeo K, Min SH, Diop-Bove N, Clayton P, Zhao R, Goldman ID.
Mol Genet Metab 103(1):33-7. Epub 2011 Jan 25. 2011
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
Meyer E, Kurian MA, Pasha S, Trembath RC, Cole T, Maher ER.
Mol Genet Metab 99(3):325-8. Epub 2009 Nov 16.PMID: 20005757 2010
The obligatory intestinal folate transporter PCFT (SLC46A1) is regulated by nuclear respiratory factor 1.
Gonen N, Assaraf YG.
J Biol Chem 285(44):33602-13. Epub 2010 Aug 19. 2010
Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants.
Wang X, Leiendecker-Foster C, Acton RT, Barton JC, McLaren CE, McLaren GD, Gordeuk VR, Eckfeldt JH.
Blood Cells Mol Dis 42(2):150-4. Epub 2009 Jan 26. 2009
A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis.
Zhao R, Min SH, Wang Y, Campanella E, Low PS, Goldman ID.
J Biol Chem 284(7):4267-74. Epub 2008 Dec 11. 2009
The functional roles of the His247 and His281 residues in folate and proton translocation mediated by the human proton-coupled folate transporter SLC46A1.
Unal ES, Zhao R, Chang MH, Fiser A, Romero MF, Goldman ID.
J Biol Chem 284(26):17846-57. Epub 2009 Apr 23. 2009
Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding.
Lasry I, Berman B, Glaser F, Jansen G, Assaraf YG.
Biochem Biophys Res Commun 386(3):426-31. Epub 2009 Jun 7. 2009
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG.
Blood 112(5):2055-61. Epub 2008 Jun 17. 2008
PCFT/SLC46A1 promoter methylation and restoration of gene expression in human leukemia cells.
Gonen N, Bram EE, Assaraf YG.
Biochem Biophys Res Commun 376(4):787-92. Epub 2008 Sep 24. 2008
10CFM, SLC46A1
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
Zhao R, Min SH, Qiu A, Sakaris A, Goldberg GL, Sandoval C, Malatack JJ, Rosenblatt DS, Goldman ID.
Blood 110(4):1147-52. Epub 2007 Apr 19. 2007
11CFM, SLC46A1
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID.
Cell 127(5):917-28. 2006
12CFM, SLC46A1
Hereditary folate malabsorption: family report and review of the literature.
Geller J, Kronn D, Jayabose S, Sandoval C.
Medicine (Baltimore) 81(1):51-68. Review. No abstract available. 2002