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Inhibition of Phospholipase D Activity by Fodrin

Autor: Sandra Lukowski, Françoise Russo-Marie, Jean-Paul Mira, H. Gautero, Philippe Marin, Blandine Geny, Marie-Christine Lecomte

Publikováno v: Journal of Biological Chemistry. 271:24164-24171

Phospholipase D (PLD) is a major enzyme implicated in important cellular processes such as secretion and proliferation. The knowledge of its regulation is essential to understand the control of these phenomena. Several proteins activating PLD have be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3d533e969421e2738f2dfdd6f77fa86e
https://doi.org/10.1074/jbc.271.39.24164

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Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene

Autor: Colette Galand, Sophie Pedroni, M. Garbarz, Pierre Boivin, Leonardo Feldman, Marie Christine Lecomte, Didier Dhermy, H. Gautero, L Boulanger

Publikováno v: Blood. 80:1066-1073

An Argentinian family with hereditary elliptocytosis (HE) associated with a shortened beta-spectrin (Sp) chain was studied. As with most of the other shortened Sp beta-chains that have been described, this variant, called SpTandil, has impaired abili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45447f5f8fbc2abc1f607d6b0928d135
https://doi.org/10.1182/blood.v80.4.1066.1066

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Elliptocytosis-associated spectrin Rouen (β220/218) has a truncated but still phosphorylatable β chain

Autor: Odile Bournier, J. P. Vannier, Gil Tchernia, H. Gautero, A. Lahary, Didier Dhermy, Colette Galand, Pierre Boivin, Marie-Christine Lecomte, M. Garbarz, Jacques Delaunay

Publikováno v: British Journal of Haematology. 80:242-250

Spectrin Rouen (beta 220/218) is a novel variant, carrying a shortened beta chain with an apparent molecular weight of 218 kDa. It was detected in a French family. All affected members suffered from haemolytic hereditary elliptocytosis. As other shor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3f9e7d04b4cfa33188a84a1ba172eee
https://doi.org/10.1111/j.1365-2141.1992.tb08907.x

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Abnormal tryptic peptide from the spectrin α-chain resulting from α- or β-chain mutations: two genetically distinct forms of the Sp αI/74variant

Autor: Pierre Boivin, H. Gautero, Marie-Christine Lecomte, M. Garbarz, Didier Dhermy

Publikováno v: British Journal of Haematology. 76:406-413

Limited tryptic digestion of native spectrin (Sp) has revealed several variants in hereditary pyropoikilocytosis (HPP) and in a subset of patients with hereditary elliptocytosis (HE). In most cases, tryptic peptide corresponding to the alpha I (N-ter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d0a2d0821d2161b13f6195be51c90ef6
https://doi.org/10.1111/j.1365-2141.1990.tb06376.x

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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

Autor: Isabelle Devaux, H. Gautero, Marie-Christine Lecomte, C. Picat, C Feo, Odile Bournier, Christine Lefebvre, F Galibert, M. Garbarz, Colette Galand

Publikováno v: Blood. 75:1691-1698

We describe a white French family in which 12 subjects presented with hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP). Eight of these subjects were shown to be heterozygous for a spectrin (Sp) alpha I/74 variant, as demonstrated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::850925130e5d0425a96d664bb56988f4
https://doi.org/10.1182/blood.v75.8.1691.1691

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

Autor: C Craescu, S Pedroni, Marie-Christine Lecomte, H. Gautero, Didier Dhermy, Gaël Nicolas, Catherine Fournier

Publikováno v: Biochemical Journal
Biochemical Journal, Portland Press, 1998, 332 ( Pt 1), pp.81-9
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International audience; 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 defect, which itself depends on t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8718ad80a78a192cc21a9a948bb8c741
https://europepmc.org/articles/PMC1219454/

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

Autor: Didier Dhermy, Colette Galand, Pierre Boivin, M. Garbarz, H. Gautero, Odile Bournier, Marie-Christine Lecomte

Publikováno v: British journal of haematology. 85(3)

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 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232e833a6e51d4171c694b9692eee372
https://pubmed.ncbi.nlm.nih.gov/8136282

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Heterogeneous phosphorylation of erythrocyte spectrin beta chain in intact cells

Autor: H. Gautero, Marie-Christine Lecomte, Didier Dhermy, S Pedroni

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 beta chain. The latter contains a cluster of four p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019f1071f9f5c51cd9f62e2f2e928cf4
https://europepmc.org/articles/PMC1134538/

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