Genetic disorders of the red cell membranes (Q28295517)

NF-kappa B and related proteins: Rel/dorsal homologies meet ankyrin-like repeats

Europe PubMed Central

title

Genetic disorders of the red cell membranes (English)

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author name string

J Delaunay

series ordinal

1

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language of work or name

English

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publication date

1 August 1995

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published in

FEBS Letters

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volume

369

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page(s)

34-7

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issue

1

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cites work

1 reference

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Erythrocyte spectrin is comprised of many homologous triple helical segments

21 January 2018

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Analysis of the three-alpha-helix motif in the spectrin superfamily of proteins

21 January 2018

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A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis

21 January 2018

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Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice

21 January 2018

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Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).

21 January 2018

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Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells

21 January 2018

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A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia

21 January 2018

1 reference

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Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

21 January 2018

1 reference

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Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans

21 January 2018

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Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

21 January 2018

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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene

21 January 2018

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Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton

21 January 2018

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Red cell membrane sialoglycoprotein beta in homozygous and heterozygous 4.1(-) hereditary elliptocytosis

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