Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association
about
Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissuesCrystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complexSpectrin alpha II and beta II isoforms interact with high affinity at the tetramerization siteA common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple heSpectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutationFour different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosisSolution structural studies on human erythrocyte alpha-spectrin tetramerization siteMapping the human erythrocyte beta-spectrin dimer initiation site using recombinant peptides and correlation of its phasing with the alpha-actinin dimer siteProbing conformational stability and dynamics of erythroid and nonerythroid spectrin: effects of urea and guanidine hydrochlorideStructural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.A fused alpha-beta "mini-spectrin" mimics the intact erythrocyte spectrin head-to-head tetramer.Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.Spectrin: the ghost in the machine.Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.A StuI RFLP in the human beta-spectrin gene (SPTB)Spectrin functions upstream of ankyrin in a spectrin cytoskeleton assembly pathway.Drosophila development requires spectrin network formation.Unexpected complexity in the mechanisms that target assembly of the spectrin cytoskeletonConformational changes at the tetramerization site of erythroid alpha-spectrin upon binding beta-spectrin: a spin label EPR studyA nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.Ankyrin protein networks in membrane formation and stabilization.Phasing the conformational unit of spectrin.Phosphorylation of a threonine unique to the short C-terminal isoform of betaII-spectrin links regulation of alpha-beta spectrin interaction to neuritogenesis.Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.Modulation of erythrocyte membrane mechanical function by protein 4.1 phosphorylation.The spectrin repeat folds into a three-helix bundle in solution.Vesiculation of healthy and defective red blood cells.ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
P2860
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P2860
Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association
description
1990 nî lūn-bûn
@nan
1990 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
name
Point mutation in the beta-spe ...... pectrin dimer self-association
@ast
Point mutation in the beta-spe ...... pectrin dimer self-association
@en
Point mutation in the beta-spe ...... pectrin dimer self-association
@nl
type
label
Point mutation in the beta-spe ...... pectrin dimer self-association
@ast
Point mutation in the beta-spe ...... pectrin dimer self-association
@en
Point mutation in the beta-spe ...... pectrin dimer self-association
@nl
prefLabel
Point mutation in the beta-spe ...... pectrin dimer self-association
@ast
Point mutation in the beta-spe ...... pectrin dimer self-association
@en
Point mutation in the beta-spe ...... pectrin dimer self-association
@nl
P2093
P2860
P356
P1476
Point mutation in the beta-spe ...... pectrin dimer self-association
@en
P2093
B G Forget
M C Lecomte
P2860
P304
P356
10.1172/JCI114792
P407
P577
1990-09-01T00:00:00Z