Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides
about
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage diseaseVaried mechanisms underlie the free sialic acid storage disordersHaplotype analysis in prenatal diagnosis and carrier identification of Salla disease.Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changesThe human metabolic reconstruction Recon 1 directs hypotheses of novel human metabolic functionsLysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.Magnetic resonance imaging pattern recognition in hypomyelinating disordersFunctional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.Functional characterization of wild-type and mutant human sialin.Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.Evidence for efficient uptake and incorporation of sialic acid by eukaryotic cells.Lysosomal metabolomics reveals V-ATPase- and mTOR-dependent regulation of amino acid efflux from lysosomes.
P2860
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P2860
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides
description
1991 nî lūn-bûn
@nan
1991 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@ast
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@en
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@nl
type
label
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@ast
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@en
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@nl
prefLabel
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@ast
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@en
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@nl
P2093
P2860
P356
P1476
Sialic acid storage diseases. ...... ect for acidic monosaccharides
@en
P2093
C E Beerens
F W Verheijen
G M Mancini
P2860
P304
P356
10.1172/JCI115136
P407
P577
1991-04-01T00:00:00Z