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Items: 1 to 20 of 51

1.

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Zhao R, Aluri S, Goldman ID.

Mol Aspects Med. 2017 Feb;53:57-72. doi: 10.1016/j.mam.2016.09.002. Epub 2016 Sep 21. Review.

PMID:
27664775
2.

Experimentally optimized threading structures of the proton-coupled folate transporter.

Date SS, Chen CY, Chen Y, Jansen M.

FEBS Open Bio. 2016 Feb 22;6(3):216-30. doi: 10.1002/2211-5463.12041. eCollection 2016 Mar.

3.

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.

Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry GT.

JIMD Rep. 2015;24:91-6. doi: 10.1007/8904_2015_445. Epub 2015 May 26.

4.

Hereditary folate malabsorption with extensive intracranial calcification.

Ahmad I, Mukhtar G, Iqbal J, Ali SW.

Indian Pediatr. 2015 Jan;52(1):67-8.

5.

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.

Erlacher M, Grünert SC, Cseh A, Steinfeld R, Salzer U, Lausch E, Nosswitz U, Dückers G, Niehues T, Ehl S, Niemeyer CM, Speckmann C.

Pediatr Blood Cancer. 2015 Jun;62(6):1091-4. doi: 10.1002/pbc.25364. Epub 2014 Dec 11.

PMID:
25504888
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.

Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.

Toelle SP, Wille D, Schmitt B, Scheer I, Thöny B, Plecko B.

Epileptic Disord. 2014 Mar;16(1):88-92. doi: 10.1684/epd.2014.0629.

8.

The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1.

Wang Q, Li X, Ding Y, Liu Y, Qin Y, Yang Y.

Brain Dev. 2015 Jan;37(1):163-7. doi: 10.1016/j.braindev.2014.01.010. Epub 2014 Feb 15.

PMID:
24534056
9.

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.

11.

Delineating the extracellular water-accessible surface of the proton-coupled folate transporter.

Duddempudi PK, Goyal R, Date SS, Jansen M.

PLoS One. 2013 Oct 18;8(10):e78301. doi: 10.1371/journal.pone.0078301. eCollection 2013.

12.

Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma.

Grapp M, Wrede A, Schweizer M, Hüwel S, Galla HJ, Snaidero N, Simons M, Bückers J, Low PS, Urlaub H, Gärtner J, Steinfeld R.

Nat Commun. 2013;4:2123. doi: 10.1038/ncomms3123.

13.

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.

14.

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

Grapp M, Just IA, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J, Steinfeld R.

Brain. 2012 Jul;135(Pt 7):2022-31. doi: 10.1093/brain/aws122. Epub 2012 May 13.

PMID:
22586289
15.

Mechanisms of membrane transport of folates into cells and across epithelia.

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

Annu Rev Nutr. 2011 Aug 21;31:177-201. doi: 10.1146/annurev-nutr-072610-145133. Review.

16.

Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.

Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R.

Arch Neurol. 2011 May;68(5):615-21. doi: 10.1001/archneurol.2011.80.

PMID:
21555636
17.

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, Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID.

J Pediatr. 2011 Oct;159(4):623-7.e1. doi: 10.1016/j.jpeds.2011.03.005. Epub 2011 Apr 13.

18.

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.

19.

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.

20.

Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.

Shin DS, Min SH, Russell L, Zhao R, Fiser A, Goldman ID.

Blood. 2010 Dec 9;116(24):5162-9. doi: 10.1182/blood-2010-06-291237. Epub 2010 Aug 30.

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