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Items: 1 to 20 of 92

1.

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.

Borzutzky A, Crompton B, Bergmann AK, Giliani S, Baxi S, Martin M, Neufeld EJ, Notarangelo LD.

Clin Immunol. 2009 Dec;133(3):287-94. doi: 10.1016/j.clim.2009.08.006. Epub 2009 Sep 9.

2.

A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption.

Diop-Bove N, Jain M, Scaglia F, Goldman ID.

Gene. 2013 Sep 25;527(2):673-4. doi: 10.1016/j.gene.2013.06.039. Epub 2013 Jun 28.

3.

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. 2007 Aug 15;110(4):1147-52. Epub 2007 Apr 19.

4.

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.

Atabay B, Turker M, Ozer EA, Mahadeo K, Diop-Bove N, Goldman ID.

Pediatr Hematol Oncol. 2010 Nov;27(8):614-9. doi: 10.3109/08880018.2010.481705.

5.

The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

Min SH, Oh SY, Karp GI, Poncz M, Zhao R, Goldman ID.

J Pediatr. 2008 Sep;153(3):435-7. doi: 10.1016/j.jpeds.2008.04.009.

6.

Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption.

Kishimoto K, Kobayashi R, Sano H, Suzuki D, Maruoka H, Yasuda K, Chida N, Yamada M, Kobayashi K.

Clin Immunol. 2014 Jul;153(1):17-22. doi: 10.1016/j.clim.2014.03.014. Epub 2014 Mar 29.

PMID:
24691418
7.

Role of the glutamate 185 residue in proton translocation mediated by the proton-coupled folate transporter SLC46A1.

Unal ES, Zhao R, Goldman ID.

Am J Physiol Cell Physiol. 2009 Jul;297(1):C66-74. doi: 10.1152/ajpcell.00096.2009. Epub 2009 Apr 29.

8.

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. 2010 Mar;99(3):325-8. doi: 10.1016/j.ymgme.2009.11.004. Epub 2009 Nov 16.

9.

Haem and folate transport by proton-coupled folate transporter/haem carrier protein 1 (SLC46A1).

Laftah AH, Latunde-Dada GO, Fakih S, Hider RC, Simpson RJ, McKie AT.

Br J Nutr. 2009 Apr;101(8):1150-6. doi: 10.1017/S0007114508066762. Epub 2008 Sep 10.

PMID:
18782461
10.

Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.

Shin DS, Zhao R, Fiser A, Goldman DI.

Am J Physiol Cell Physiol. 2012 Oct 15;303(8):C834-42. doi: 10.1152/ajpcell.00171.2012. Epub 2012 Jul 25.

11.

The obligatory intestinal folate transporter PCFT (SLC46A1) is regulated by nuclear respiratory factor 1.

Gonen N, Assaraf YG.

J Biol Chem. 2010 Oct 29;285(44):33602-13. doi: 10.1074/jbc.M110.135640. Epub 2010 Aug 19.

12.

A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency.

Salojin KV, Cabrera RM, Sun W, Chang WC, Lin C, Duncan L, Platt KA, Read R, Vogel P, Liu Q, Finnell RH, Oravecz T.

Blood. 2011 May 5;117(18):4895-904. doi: 10.1182/blood-2010-04-279653. Epub 2011 Feb 23.

13.

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. 2009 Feb 13;284(7):4267-74. doi: 10.1074/jbc.M807665200. Epub 2008 Dec 11.

14.

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. 2008 Sep 1;112(5):2055-61. doi: 10.1182/blood-2008-04-150276. Epub 2008 Jun 17.

15.

A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding.

Shin DS, Zhao R, Yap EH, Fiser A, Goldman ID.

Am J Physiol Cell Physiol. 2012 May 1;302(9):C1405-12. doi: 10.1152/ajpcell.00435.2011. Epub 2012 Feb 15.

16.

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. 2011 May;103(1):33-7. doi: 10.1016/j.ymgme.2011.01.008. Epub 2011 Jan 25.

17.

Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.

Mahadeo K, Diop-Bove N, Shin D, Unal ES, Teo J, Zhao R, Chang MH, Fulterer A, Romero MF, Goldman ID.

Am J Physiol Cell Physiol. 2010 Nov;299(5):C1153-61. doi: 10.1152/ajpcell.00113.2010. Epub 2010 Aug 4.

18.

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. 2009 Aug 28;386(3):426-31. doi: 10.1016/j.bbrc.2009.06.007. Epub 2009 Jun 7.

PMID:
19508863
19.

The intestinal absorption of folates.

Visentin M, Diop-Bove N, Zhao R, Goldman ID.

Annu Rev Physiol. 2014;76:251-74. doi: 10.1146/annurev-physiol-020911-153251. Review.

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