The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
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The human proton-coupled folate transporter (hPCFT): modulation of intestinal expression and function by drugsBiology of the major facilitative folate transporters SLC19A1 and SLC46A1Structures of human folate receptors reveal biological trafficking states and diversity in folate and antifolate recognitionSubstituted cysteine accessibility reveals a novel transmembrane 2-3 reentrant loop and functional role for transmembrane domain 2 in the human proton-coupled folate transporter.A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorptionMembrane topological analysis of the proton-coupled folate transporter (PCFT-SLC46A1) by the substituted cysteine accessibility method.Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorptionThe obligatory intestinal folate transporter PCFT (SLC46A1) is regulated by nuclear respiratory factor 1.Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.Mechanisms of membrane transport of folates into cells and across epithelia.Identification and functional impact of homo-oligomers of the human proton-coupled folate transporter.The human proton-coupled folate transporter: Biology and therapeutic applications to cancer.Delineating the extracellular water-accessible surface of the proton-coupled folate transporter.Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) DeficiencyMembrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues.Vulnerability of the cysteine-less proton-coupled folate transporter (PCFT-SLC46A1) to mutational stress associated with the substituted cysteine accessibility method.Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorptionHypermethylation of the human proton-coupled folate transporter (SLC46A1) minimal transcriptional regulatory region in an antifolate-resistant HeLa cell line.Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.Random mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of functionA role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis.Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.The major facilitative folate transporters solute carrier 19A1 and solute carrier 46A1: biology and role in antifolate chemotherapy of cancer.The nexus of vitamin homeostasis and DNA synthesis and modification in mammalian brain.Inborn errors of metabolism underlying primary immunodeficiencies.Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.Analysis and update of the human solute carrier (SLC) gene superfamily
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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on September 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The clinical course and geneti ...... reditary folate malabsorption.
@en
The clinical course and geneti ...... reditary folate malabsorption.
@nl
type
label
The clinical course and geneti ...... reditary folate malabsorption.
@en
The clinical course and geneti ...... reditary folate malabsorption.
@nl
prefLabel
The clinical course and geneti ...... reditary folate malabsorption.
@en
The clinical course and geneti ...... reditary folate malabsorption.
@nl
P2093
P2860
P1476
The clinical course and geneti ...... reditary folate malabsorption.
@en
P2093
George I Karp
I David Goldman
Mortimer Poncz
Rongbao Zhao
Sang Hee Min
Sun Young Oh
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P304
P356
10.1016/J.JPEDS.2008.04.009
P407
P577
2008-09-01T00:00:00Z