Hereditary folate malabsorption: family report and review of the literature.
about
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorptionDrug treatment of inborn errors of metabolism: a systematic reviewEffect of chronic alcohol exposure on folate uptake by liver mitochondriaSubstituted cysteine accessibility reveals a novel transmembrane 2-3 reentrant loop and functional role for transmembrane domain 2 in the human proton-coupled folate transporter.Intestinal absorption of water-soluble vitamins in health and diseaseA 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.The proton-coupled folate transporter: physiological and pharmacological roles.Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.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.Update and new concepts in vitamin responsive disorders of folate transport and metabolism.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.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.Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.Hereditary folate malabsorption with extensive intracranial calcification.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.N-linked glycosylation and its impact on the electrophoretic mobility and function of the human proton-coupled folate transporter (HsPCFT).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 functionFunctional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.Acquired and inherited disorders of cobalamin and folate in children.New insights into the metabolic and nutritional determinants of severe combined immunodeficiency.Neurological manifestations of folate transport defect: case report and review of the literature.Differentiation-dependent regulation of the intestinal folate uptake process: studies with Caco-2 cells and native mouse intestine.Biomarkers of folate and vitamin B(12) status in cerebrospinal fluid.Novel insights into intestinal and renal folate transport. Focus on "Apical membrane targeting and trafficking of the human proton-coupled folate transporter in polarized epithelia".A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis.The functional roles of the His247 and His281 residues in folate and proton translocation mediated by the human proton-coupled folate transporter SLC46A1.The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.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.
P2860
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P2860
Hereditary folate malabsorption: family report and review of the literature.
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Hereditary folate malabsorption: family report and review of the literature.
@ast
Hereditary folate malabsorption: family report and review of the literature.
@en
Hereditary folate malabsorption: family report and review of the literature.
@nl
type
label
Hereditary folate malabsorption: family report and review of the literature.
@ast
Hereditary folate malabsorption: family report and review of the literature.
@en
Hereditary folate malabsorption: family report and review of the literature.
@nl
prefLabel
Hereditary folate malabsorption: family report and review of the literature.
@ast
Hereditary folate malabsorption: family report and review of the literature.
@en
Hereditary folate malabsorption: family report and review of the literature.
@nl
P2093
P1433
P1476
Hereditary folate malabsorption: family report and review of the literature.
@en
P2093
Claudio Sandoval
David Kronn
James Geller
Somasundaram Jayabose
P356
10.1097/00005792-200201000-00004
P407
P577
2002-01-01T00:00:00Z