M. C. Lecomte

Spectrin 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 mutation.

Garbarz, M, Tse, W T, Gallagher, P G, Picat, C, Lecomte, M C, Galibert, F, ...

The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the...

Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.

Tse, W T, Lecomte, M C, Costa, F F, Garbarz, M, Feo, C, Boivin, P, ...

alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of...

Spectrin beta-chain variant associated with hereditary elliptocytosis.

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

An electrophoretically fast-moving variant of the spectrin beta-chain was discovered in the erythrocyte membranes of a woman and her father who both exhibited elliptocytosis and mild hemolytic...

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.

Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, ...

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first...

Heterogeneous phosphorylation of erythrocyte spectrin beta chain in intact cells.

Pedroni, S, Lecomte, M C, Gautero, H, Dhermy, D

Human erythrocyte spectrin is an alpha beta heterodimer which forms tetramers by self-association. This association involves the N-terminal region of the alpha chain and the C-terminal region of the...

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

Nicolas, G, Pedroni, S, Fournier, C, Gautero, H, Craescu, C, Dhermy, D, ...

Most of hereditary elliptocytosis (HE) cases are related to a spectrin dimer (SpD) self-association defect. The severity of haemolysis is correlated with the extent of the SpD self-association...

Spectrin 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 mutation.

Garbarz, M, Tse, W T, Gallagher, P G, Picat, C, Lecomte, M C, Galibert, F, ...

The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the...

Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.

Tse, W T, Lecomte, M C, Costa, F F, Garbarz, M, Feo, C, Boivin, P, ...

alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of...

Spectrin beta-chain variant associated with hereditary elliptocytosis.

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

An electrophoretically fast-moving variant of the spectrin beta-chain was discovered in the erythrocyte membranes of a woman and her father who both exhibited elliptocytosis and mild hemolytic...

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.

Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, ...

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first...

Heterogeneous phosphorylation of erythrocyte spectrin beta chain in intact cells.

Pedroni, S, Lecomte, M C, Gautero, H, Dhermy, D

Human erythrocyte spectrin is an alpha beta heterodimer which forms tetramers by self-association. This association involves the N-terminal region of the alpha chain and the C-terminal region of the...

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

Nicolas, G, Pedroni, S, Fournier, C, Gautero, H, Craescu, C, Dhermy, D, ...

Most of hereditary elliptocytosis (HE) cases are related to a spectrin dimer (SpD) self-association defect. The severity of haemolysis is correlated with the extent of the SpD self-association...