Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter-Reference-Cited by-同舟云学术

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

Published:2009-12 Issue:3 Volume:133 Page:287-294
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

Borzutzky Arturo,Crompton Brian,Bergmann Anke K.,Giliani Silvia,Baxi Sachin,Martin Madelena,Neufeld Ellis J.,Notarangelo Luigi D.

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference23 articles.

1. DNA instability (strand breakage, uracil misincorporation, and defective repair) is increased by folic acid depletion in human lymphocytes in vitro;Duthie;FASEB J.,1998

2. Preservation of folate transport activity with a low-pH optimum in rat IEC-6 intestinal epithelial cell lines that lack reduced folate carrier function;Wang;Am. J. Physiol. Cell Physiol.,2005

3. Characterization of folate uptake by choroid plexus epithelial cells in a rat primary culture model;Wollack;J. Neurochem.,2008

4. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption;Qiu;Cell,2006

5. 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;Blood,2008

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1. Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment;Genes & Immunity;2022-12-15

2. Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene;Blood Advances;2022-11-22

3. Biology and therapeutic applications of the proton-coupled folate transporter;Expert Opinion on Drug Metabolism & Toxicology;2022-10-03

4. Updates on Severe Combined Immunodeficiency;Common Pediatric Diseases: an Updated Review;2022-04-13

5. The evolving biology of the proton‐coupled folate transporter: New insights into regulation, structure, and mechanism;The FASEB Journal;2022-01-21

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