Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

Literature DB >> 18718264

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

Sang Hee Min¹, Sun Young Oh, George I Karp, Mortimer Poncz, Rongbao Zhao, I David Goldman.

Abstract

We report 2 sequential homozygous mutations in the recently cloned proton-coupled folate transporter (PCFT) gene, resulting in the absence of this protein, in a 27-year-old woman with hereditary folate malabsorption, normal in all respects having completed higher education, who has been treated with parenteral 5-formyltetrahydrofolate since infancy.

Entities: CellLine Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2008 PMID： 18718264 PMCID： PMC3835188 DOI： 10.1016/j.jpeds.2008.04.009

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

10 in total

Review 1. Hereditary folate malabsorption: family report and review of the literature.

Authors: James Geller; David Kronn; Somasundaram Jayabose; Claudio Sandoval
Journal: Medicine (Baltimore) Date: 2002-01 Impact factor: 1.889

2. Math weaknesses in survivors of acute lymphoblastic leukemia compared to healthy children.

Authors: Kris L Kaemingk; Marissa E Carey; Ida M Moore; Michele Herzer; John J Hutter
Journal: Child Neuropsychol Date: 2004-03 Impact factor: 2.500

3. Long-term treatment of congenital folate malabsorption.

Authors: M Poncz; A Cohen
Journal: J Pediatr Date: 1996-12 Impact factor: 4.406

4. Blood-brain barrier transport of reduced folic acid.

Authors: D Wu; W M Pardridge
Journal: Pharm Res Date: 1999-03 Impact factor: 4.200

5. Therapy of congenital folate malabsorption.

Authors: M Poncz; N Colman; V Herbert; E Schwartz; A R Cohen
Journal: J Pediatr Date: 1981-01 Impact factor: 4.406

6. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.

Authors: Andong Qiu; Michaela Jansen; Antoinette Sakaris; Sang Hee Min; Shrikanta Chattopadhyay; Eugenia Tsai; Claudio Sandoval; Rongbao Zhao; Myles H Akabas; I David Goldman
Journal: Cell Date: 2006-12-01 Impact factor: 41.582

7. Antifolate resistance in a HeLa cell line associated with impaired transport independent of the reduced folate carrier.

Authors: Rongbao Zhao; Shrikanta Chattopadhyay; Marie Hanscom; I David Goldman
Journal: Clin Cancer Res Date: 2004-12-15 Impact factor: 12.531

8. The folate receptor works in tandem with a probenecid-sensitive carrier in MA104 cells in vitro.

Authors: B A Kamen; A K Smith; R G Anderson
Journal: J Clin Invest Date: 1991-04 Impact factor: 14.808

9. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.

Authors: Rongbao Zhao; Sang Hee Min; Andong Qiu; Antoinette Sakaris; Gary L Goldberg; Claudio Sandoval; J Jeffrey Malatack; David S Rosenblatt; I David Goldman
Journal: Blood Date: 2007-04-19 Impact factor: 22.113

10. Characterization of folate uptake by choroid plexus epithelial cells in a rat primary culture model.

Authors: Jan B Wollack; Benedette Makori; Stuti Ahlawat; Rajeth Koneru; Sonia C Picinich; Angela Smith; I David Goldman; Andong Qiu; Peter D Cole; John Glod; Barton Kamen
Journal: J Neurochem Date: 2007-12-10 Impact factor: 5.372

10 in total

32 in total

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

Authors: Nitzan Gonen; Yehuda G Assaraf
Journal: J Biol Chem Date: 2010-08-19 Impact factor: 5.157

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

Authors: A Torres; S A Newton; B Crompton; A Borzutzky; E J Neufeld; L Notarangelo; G T Berry
Journal: JIMD Rep Date: 2015-05-26

3. Temporal expression of genes involved in folate metabolism and transport during placental development, preeclampsia and neural tube defects.

Authors: Palani Selvam Mohanraj; Beenish Rahat; Aatish Mahajan; Rashmi Bagga; Jyotdeep Kaur
Journal: Mol Biol Rep Date: 2019-04-02 Impact factor: 2.316

Review 4. Mechanisms of membrane transport of folates into cells and across epithelia.

Authors: Rongbao Zhao; Ndeye Diop-Bove; Michele Visentin; I David Goldman
Journal: Annu Rev Nutr Date: 2011-08-21 Impact factor: 11.848

5. Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.

Authors: Kris M Mahadeo; Ndeye Diop-Bove; Sonia I Ramirez; Carmen L Cadilla; Enid Rivera; Madelena Martin; Norma B Lerner; Lisa DiAntonio; Salvatore Duva; Pedro J Santiago-Borrero; I David Goldman
Journal: J Pediatr Date: 2011-04-13 Impact factor: 4.406

Review 6. The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Authors: Rongbao Zhao; Srinivas Aluri; I David Goldman
Journal: Mol Aspects Med Date: 2016-09-21

Review 7. Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues.

Authors: Rongbao Zhao; Larry H Matherly; I David Goldman
Journal: Expert Rev Mol Med Date: 2009-01-28 Impact factor: 5.600