The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption
about
The human proton-coupled folate transporter (hPCFT): modulation of intestinal expression and function by drugsBiology of the major facilitative folate transporters SLC19A1 and SLC46A1The molecular basis of folate salvage in Plasmodium falciparum: characterization of two folate transportersSubstituted 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.Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.Delineating the extracellular water-accessible surface of the proton-coupled folate transporter.The intestinal absorption of folates.Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.Hereditary folate malabsorption with extensive intracranial calcification.Structural determinants of human proton-coupled folate transporter oligomerization: role of GXXXG motifs and identification of oligomeric interfaces at transmembrane domains 3 and 6CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) DeficiencyThe reduced folate carrier (RFC) is cytotoxic to cells under conditions of severe folate deprivation. RFC as a double edged sword in folate homeostasisMembrane 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.Apical membrane targeting and trafficking of the human proton-coupled transporter in polarized epithelia.N-linked glycosylation and its impact on the electrophoretic mobility and function of the human proton-coupled folate transporter (HsPCFT).The proton-coupled folate transporter: impact on pemetrexed transport and on antifolates activities compared with the reduced folate carrier.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 functionIdentification of Tyr residues that enhance folate substrate binding and constrain oscillation of the proton-coupled folate transporter (PCFT-SLC46A1).Determinants of the activities of antifolates delivered into cells by folate-receptor-mediated endocytosis.Regular Multivitamin Supplement Use, Single Nucleotide Polymorphisms in ATIC, SHMT2, and SLC46A1, and Risk of Ovarian Carcinoma.A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding.Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1)Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.Identification and characterization of a 66-68-kDa protein as a methotrexate-binding protein in murine leukemia L1210 cellsNew insights into the metabolic and nutritional determinants of severe combined immunodeficiency.Identification of an Extracellular Gate for the Proton-coupled Folate Transporter (PCFT-SLC46A1) by Cysteine Cross-linking.Differentiation-dependent regulation of the intestinal folate uptake process: studies with Caco-2 cells and native mouse intestine.Role of the fourth transmembrane domain in proton-coupled folate transporter function as assessed by the substituted cysteine accessibility method.
P2860
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P2860
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption
description
2007 nî lūn-bûn
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2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
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2007年の論文
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2007年学术文章
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2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
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2007年学术文章
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2007年學術文章
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name
The spectrum of mutations in t ...... ereditary folate malabsorption
@ast
The spectrum of mutations in t ...... ereditary folate malabsorption
@en
The spectrum of mutations in t ...... ereditary folate malabsorption
@nl
type
label
The spectrum of mutations in t ...... ereditary folate malabsorption
@ast
The spectrum of mutations in t ...... ereditary folate malabsorption
@en
The spectrum of mutations in t ...... ereditary folate malabsorption
@nl
prefLabel
The spectrum of mutations in t ...... ereditary folate malabsorption
@ast
The spectrum of mutations in t ...... ereditary folate malabsorption
@en
The spectrum of mutations in t ...... ereditary folate malabsorption
@nl
P2093
P2860
P1433
P1476
The spectrum of mutations in t ...... ereditary folate malabsorption
@en
P2093
Andong Qiu
Antoinette Sakaris
Claudio Sandoval
David S Rosenblatt
Gary L Goldberg
I David Goldman
J Jeffrey Malatack
Rongbao Zhao
Sang Hee Min
P2860
P304
P356
10.1182/BLOOD-2007-02-077099
P407
P577
2007-08-15T00:00:00Z