Citations for
1CFM, SLC46A1
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
2CFM, SLC46A1
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
3CFM, NRF1, SLC46A1
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
4CFM, SLC46A1
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
5CFM, SLC46A1
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
6CFM, 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
7CFM, 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
8CFM, 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