ArticleBlood2008
Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.
Article in Blood, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00723567 (Case Report), which is not on this map. Cited by 31 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes
Who cites it
31 citing papers in PubMed, 54 citations in OpenAlex.
- Red cell shape regulation by band 3-ankyrin-spectrin linkage: implications for clinical severity of bovine hereditary spherocytosis.Blood red cells & iron · 2025Article
- Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.Molecular biology reports · 2025Article
- Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.BMC medical genomics · 2023Article
- Endothelial tip/stalk cell selection requires BMP9-induced βMolecular biology of the cell · 2023Article
- Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis.Hematology reports · 2022Article
- The cell cortex-localized protein CHDP-1 is required for dendritic development and transport in C. elegans neurons.PLoS genetics · 2022Article
- Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.Journal of clinical laboratory analysis · 2021Article
- Article
- Red cell membrane protein abnormalities as defined by sds-page among patients with anemia in a West African region hospital practice.Caspian journal of internal medicine · 2020Article
- Spectrin-based membrane skeleton supports ciliogenesis.PLoS biology · 2019Article
- Article
- In pursuit of the mechanics that shape cell surfaces.Nature physics · 2018Article
- Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.Molecular medicine reports · 2018Article
- Spectrin tetramer formation is not required for viable development in Drosophila.The Journal of biological chemistry · 2015Article
- Mechanical control of the sense of touch by β-spectrin.Nature cell biology · 2014Article
- Mechanism of assembly of the non-covalent spectrin tetramerization domain from intrinsically disordered partners.Journal of molecular biology · 2014Article
- Abnormalities of the erythrocyte membrane.Pediatric clinics of North America · 2013Review
- Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.Haematologica · 2013Article
- Article
- Understanding pathogenic single-nucleotide polymorphisms in multidomain proteins--studies of isolated domains are not enough.The FEBS journal · 2013Article
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5 authors at 2 institutions in 1 country.
Funding
Abstract
The most common hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) mutations are alpha-spectrin missense mutations in the dimer-tetramer self-association site. In this study, we systematically compared structural and functional properties of the 14 known HE/HPP mutations located in the alpha-spectrin tetramer binding site. All mutant alpha-spectrin recombinant peptides were well folded, stable structures, with only the R34W mutant exhibiting a slight structural destabilization. In contrast, binding affinities measured by isothermal titration calorimetry were greatly variable, ranging from no detectable binding observed for I24S, R28C, R28H, R28S, and R45S to approximately wild-type binding for R34W and K48R. Binding affinities for the other 7 mutants were reduced by approximately 10- to 100-fold relative to wild-type binding. Some sites, such as R28, were hot spots that were very sensitive to even relatively conservative substitutions, whereas other sites were only moderately perturbed by nonconservative substitutions. The R34W and K48R mutations were particularly intriguing mutations that apparently either destabilize tetramers through mechanisms not probed by the univalent tetramer binding assay or represent polymorphisms rather than the pathogenic mutations responsible for observed clinical symptoms. All alpha0 HE/HPP mutations studied here appear to exert their destabilizing effects through molecular recognition rather than structural mechanisms.
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