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Article

Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants.

British journal of haematology - 1 Nov 1993

Lecomte M C, Garbarz M, Gautero H, Bournier O, Galand C, Boivin P, Dhermy D

Abstract excerpt

The impaired ability of spectrin dimers to self-associate into tetramers is one of the most frequent defects associated with hereditary elliptocytosis (HE) and its more serious form, hereditary pyropoikylocytosis (HPP). We previously described four proteic variants of the spectrin (Sp) alpha I tryptic domain associated with the Sp dimer self-association defect (Sp alpha I/78, Sp alpha I/74, Sp alpha I/65, Sp...

Topics

Electrophoresis, Polyacrylamide Gel
Elliptocytosis, Hereditary
Erythrocyte Deformability
Erythrocyte Membrane
Erythrocytes
Hemolysis
Humans
Mutation
Peptide Mapping
Spectrin
Stress, Mechanical

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Trypsin

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Identifiers

PMID: 8136282
DOI: 10.1111/j.1365-2141.1993.tb03352.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8136282-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants.PMID 8136282Read ↗

Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.Semantic proximity Read ↗

Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.Semantic proximity Read ↗

Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.Semantic proximity Read ↗

Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion.Semantic proximity Read ↗

Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.Semantic proximity Read ↗

Molecular heterogeneity of hereditary elliptocytosis in Italy.Semantic proximity Read ↗

A 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 helical model of spectrin.Semantic proximity Read ↗

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.Semantic proximity Read ↗

[Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].Semantic proximity Read ↗

Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution.Semantic proximity Read ↗

Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.Semantic proximity Read ↗

The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation.Semantic proximity Read ↗

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