Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
about
Biology of the major facilitative folate transporters SLC19A1 and SLC46A1Substituted cysteine accessibility reveals a novel transmembrane 2-3 reentrant loop and functional role for transmembrane domain 2 in the human proton-coupled folate transporter.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.The intestinal absorption of folates.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) DeficiencyRandom mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of functionIdentification 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.Expression in Sf9 insect cells, purification and functional reconstitution of the human proton-coupled folate transporter (PCFT, SLC46A1).Functional and mechanistic roles of the human proton-coupled folate transporter transmembrane domain 6-7 linker.The major facilitative folate transporters solute carrier 19A1 and solute carrier 46A1: biology and role in antifolate chemotherapy of cancer.Heme in pathophysiology: a matter of scavenging, metabolism and trafficking across cell membranes.Clinical, etiological and therapeutic aspects of cerebral folate deficiency.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.Experimentally optimized threading structures of the proton-coupled folate transporter.The monomeric state of the proton-coupled folate transporter represents the functional unit in the plasma membrane.The promise and challenges of exploiting the proton-coupled folate transporter for selective therapeutic targeting of cancer.
P2860
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P2860
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
description
2011 nî lūn-bûn
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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Identification of novel mutati ...... ereditary folate malabsorption
@ast
Identification of novel mutati ...... ereditary folate malabsorption
@en
Identification of novel mutations in the proton-coupled folate transporter
@nl
type
label
Identification of novel mutati ...... ereditary folate malabsorption
@ast
Identification of novel mutati ...... ereditary folate malabsorption
@en
Identification of novel mutations in the proton-coupled folate transporter
@nl
prefLabel
Identification of novel mutati ...... ereditary folate malabsorption
@ast
Identification of novel mutati ...... ereditary folate malabsorption
@en
Identification of novel mutations in the proton-coupled folate transporter
@nl
P2093
P2860
P1476
Identification of novel mutati ...... ereditary folate malabsorption
@en
P2093
I David Goldman
Kris Mahadeo
Ndeye Diop-Bove
Peter Clayton
Rongbao Zhao
Sang Hee Min
P2860
P356
10.1016/J.YMGME.2011.01.008
P577
2011-01-25T00:00:00Z