Search Results - "Arous, Nicole"

COMMD1-mediated ubiquitination regulates CFTR trafficking by Drévillon, Loïc, Tanguy, Gaëlle, Hinzpeter, Alexandre, Arous, Nicole, de Becdelièvre, Alix, Aissat, Abdel, Tarze, Agathe, Goossens, Michel, Fanen, Pascale

“…The CFTR (cystic fibrosis transmembrane conductance regulator) protein is a large polytopic protein whose biogenesis is inefficient. To better understand the…”
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Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier by Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, de Becdelièvre, Alix, Costes, Bruno, Goossens, Michel, Galietta, Luis J, Girodon, Emmanuelle, Fanen, Pascale

“…Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes…”
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Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators by Caputo, Antonella, Hinzpeter, Alexandre, Caci, Emanuela, Pedemonte, Nicoletta, Arous, Nicole, Di Duca, Marco, Zegarra-Moran, Olga, Fanen, Pascale, Galietta, Luis J V

“…Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel. The mutations G551D and G1349D,…”
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Two Mild Cystic Fibrosis-associated Mutations Result in Severe Cystic Fibrosis When Combined in Cis and Reveal a Residue Important for Cystic Fibrosis Transmembrane Conductance Regulator Processing and Function by Clain, Jérôme, Fritsch, Janine, Lehmann-Che, Jacqueline, Bali, Moëz, Arous, Nicole, Goossens, Michel, Edelman, Aleksander, Fanen, Pascale

“…The number of complex cystic fibrosis transmembrane conductance regulator (CFTR) genotypes identified as having double-mutant alleles with two mutations…”
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Critical Role of Human Bisphosphoglycerate Mutase Cys22 in the Phosphatase Activator-binding Site by Ravel, Pascale, Craescu, Constantin T., Arous, Nicole, Rosa, Jean, Garel, Marie Claude

“…The enzymatic activities catalyzed by bisphosphoglycerate mutase (BPGM, EC 5.4.2.4) have been shown to occur at a unique active site, with distinct binding…”
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CSN5 binds to misfolded CFTR and promotes its degradation by Tanguy, Gaëlle, Drévillon, Loïc, Arous, Nicole, Hasnain, Afia, Hinzpeter, Alexandre, Fritsch, Janine, Goossens, Michel, Fanen, Pascale

“…Cystic fibrosis is mainly caused by mutations that interfere with the biosynthetic folding of the cystic fibrosis transmembrane conductance regulator (CFTR)…”
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Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier: e1001153 by Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, Becdelièvre, Alix de, Costes, Bruno, Goossens, Michel, Galietta, Luis J, Girodon, Emmanuelle, Fanen, Pascale

“…Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes…”
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Hemoglobin Saint Mandé β102 (G4) Asn → Tyr: a new low oxygen affinity variant by Arous, Nicole, Braconnier, François, Thillet, Joëlle, Blouquit, Yves, Galacteros, Frédéric, Chevrier, Michel, Bordahandy, Claude, Rosa, Jean

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Amino acid residues involved in the catalytic site of human erythrocyte bisphosphoglycerate mutase by GAREL, Marie‐Claude, LEMARCHANDEL, Valérie, CALVIN, Marie‐Claude, AROUS, Nicole, CRAESCU, Constantin Tigeliu, PREHU, Marie‐Odette, ROSA, Jean, ROSA, Raymonde

“…Human bisphosphoglycerate mutase (GriP2 mutase) is a trifunctional enzyme which synthesizes and degrades GriP2 in red cells. Among the amino acid residues…”
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Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype by Clain, Jérôme, Lehmann-Che, Jacqueline, Duguépéroux, Ingrid, Arous, Nicole, Girodon, Emmanuelle, Legendre, Marie, Goossens, Michel, Edelman, Aleksander, de Braekeleer, Marc, Teulon, Jacques, Fanen, Pascale

“…Cystic fibrosis (CF) is mainly caused by mutations that interfere with the biosynthetic folding of the cystic fibrosis transmembrane conductance regulator…”
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Resveratrol, a natural dietary phytoalexin, possesses similar properties to hydroxyurea towards erythroid differentiation by Rodrigue, Christelle M., Arous, Nicole, Bachir, Dora, Smith‐Ravin, Juliette, Romeo, Paul‐Henri, Galacteros, Frédéric, Garel, Marie‐Claude

“…Resveratrol, a natural dietary polyphenol, has been postulated to be implicated in the cardioprotective effect of red wine and the low incidence of breast and…”
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Resveratol, a natural dietary phytoalexin, possesses similar properties to hydroxyurea towards erythroid differentiation by Rodrigue, Christelle M, Arous, Nicole, Bachir, Dora, Smith-Ravin, Juliette

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Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype: MISPROCESSING OF CFTR AND MILD PHENOTYPE by Clain, Jérôme, Lehmann-Che, Jacqueline, Duguépéroux, Ingrid, Arous, Nicole, Girodon, Emmanuelle, Legendre, Marie, Goossens, Michel, Edelman, Aleksander, de Braekeleer, Marc, Teulon, Jacques, Fanen, Pascale

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Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis by Caci, Emanuela, Caputo, Antonella, Hinzpeter, Alexandre, Arous, Nicole, Fanen, Pascale, Sonawane, Nitin, Verkman, A S, Ravazzolo, Roberto, Zegarra-Moran, Olga, Galietta, Luis J V

“…CFTR (cystic fibrosis transmembrane conductance regulator) is an epithelial Cl- channel inhibited with high affinity and selectivity by the thiazolidinone…”
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A recombinant bisphosphoglycerate mutase variant with acid phosphate homology degrades 2,3-diphosphoglycerate by Garel, Marie-Claude, Rosa, Raymonde, Rosa, Jean, Arous, Nicole

“…In an effort to decrease 2,3-bisphosphate (2,3-DPB) level in erythrocytes by increasing the bisphosphoglycerate mutase (BPGM) phosphatase activity, a study…”
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Haemoglobin J‐Biskra: a new mildly unstable α1 gene variant with a deletion of eight residues (α50–57, α51–58 or α52–59) including the distal histidine by Wajcman, Henri, Dahmane, Malika, Préhu, Claude, Costes, Bruno, Promé, Danielle, Arous, Nicole, Bardakdjian‐Michau, Josiane, Riou, Jean, Ayache, Kadour Cherif, Godart, Christian, Galactéros, Frédéric

“…Single point mutation, which accounts for 92% of the 700 known variants, is the most frequent genetic defect responsible for abnormal haemoglobins. Small…”
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A Recombinant Bisphosphoglycerate Mutase Variant with Acid Phosphatase Homology Degrades 2,3-Diphosphoglycerate by Garel, Marie-Claude, Arous, Nicole, Calvin, Marie-Claude, Craescu, Constantin Tigeliu, Rosa, Jean, Rosa, Raymonde

“…To date no definite and undisputed treatment has been found for sickle cell anemia, which is characterized by polymerization of a deoxygenated hemoglobin…”
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Hemoglobin Saint Mandé [β102 (G4) Asn→Tyr] by POYART, Claude, SCHAAD, Olivier, KISTER, Jean, GALACTEROS, Frédéric, EDELSTEIN, Stuart J., BLOUQUIT, Yves, AROUS, Nicole

“…Oxygen equilibrium studies of purified hemoglobin Saint Mandé (Hb SM) [β102 (G4) Asn→Tyr] reveal a decreased oxygen affinity and cooperativity but to a lesser…”
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Hemoglobin Saint Mandé [β102 (G4) Asn→Tyr] : functional studies and structural modeling reveal an altered T state by POYART, C, SCHAAD, O, KISTER, J, GALACTEROS, F, EDELSTEIN, S. J, BLOUQUIT, Y, AROUS, N

“…Oxygen equilibrium studies of purified hemoglobin Saint Mandé (Hb SM) [beta 102 (G4) Asn---Tyr] reveal a decreased oxygen affinity and cooperativity but to a…”
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Purification of human erythrocyte phosphoglyceromutase by Rosa, R, Calvin, M C, Prehu, M O, Arous, N

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