Cadherins as Targets for Genetic Diseases

Por El-Amraoui, Aziz, Petit, Christine
Publicado em 2010

Otogelin: A glycoprotein specific to the acellular membranes of the inner ear

Por Cohen-Salmon, Martine, El-Amraoui, Aziz, Leibovici, Michel, Petit, Christine
Publicado em 1997

Involvement of the Rab27 Binding Protein Slac2c/MyRIP in Insulin Exocytosis

Por Waselle, Laurent, Coppola, Thierry, Fukuda, Mitsunori, Iezzi, Mariella, El-Amraoui, Aziz, Petit, Christine, Regazzi, Romano
Publicado em 2003

KCNQ4, a K(+) channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway

Por Kharkovets, Tatjana, Hardelin, Jean-Pierre, Safieddine, Saaid, Schweizer, Michaela, El-Amraoui, Aziz, Petit, Christine, Jentsch, Thomas J.
Publicado em 2000

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin–catenins complex

Por Küssel-Andermann, Polonca, El-Amraoui, Aziz, Safieddine, Saaid, Nouaille, Sylvie, Perfettini, Isabelle, Lecuit, Marc, Cossart, Pascale, Wolfrum, Uwe, Petit, Christine
Publicado em 2000

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians

Por Cortese, Matteo, Papal, Samantha, Pisciottano, Francisco, Elgoyhen, Ana Belén, Hardelin, Jean-Pierre, Petit, Christine, Franchini, Lucia Florencia, El-Amraoui, Aziz
Publicado no Proc Natl Acad Sci U S A (2017)

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

Por El-Amraoui, Aziz, Schonn, Jean-Sébastien, Küssel-Andermann, Polonca, Blanchard, Stéphane, Desnos, Claire, Henry, Jean-Pierre, Wolfrum, Uwe, Darchen, François, Petit, Christine
Publicado em 2002

Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

Por Schietroma, Cataldo, Parain, Karine, Estivalet, Amrit, Aghaie, Asadollah, Boutet de Monvel, Jacques, Picaud, Serge, Sahel, José-Alain, Perron, Muriel, El-Amraoui, Aziz, Petit, Christine
Publicado no J Cell Biol (2017)

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

Por Lelli, Andrea, Michel, Vincent, Boutet de Monvel, Jacques, Cortese, Matteo, Bosch-Grau, Montserrat, Aghaie, Asadollah, Perfettini, Isabelle, Dupont, Typhaine, Avan, Paul, El-Amraoui, Aziz, Petit, Christine
Publicado no J Cell Biol (2016)

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery

Por Bahloul, Amel, Pepermans, Elise, Raynal, Bertrand, Wolff, Nicolas, Cordier, Florence, England, Patrick, Nouaille, Sylvie, Baron, Bruno, El‐Amraoui, Aziz, Hardelin, Jean‐Pierre, Durand, Dominique, Petit, Christine
Publicado no FEBS Lett (2017)

Variants in CIB2 cause DFNB48 and not USH1J

Por Booth, Kevin T, Kahrizi, Kimia, Babanejad, Mojgan, Daghagh, Hossein, Bademci, Guney, Arzhangi, Sanaz, Zareabdollahi, Davood, Duman, Duygu, El-Amraoui, Aziz, Tekin, Mustafa, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J
Publicado no Clin Genet (2018)

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

Por Trouillet, Alix, Dubus, Elisabeth, Dégardin, Julie, Estivalet, Amrit, Ivkovic, Ivana, Godefroy, David, García-Ayuso, Diego, Simonutti, Manuel, Sahly, Iman, Sahel, José A., El-Amraoui, Aziz, Petit, Christine, Picaud, Serge
Publicado no Sci Rep (2018)

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

Por Boëda, Batiste, El-Amraoui, Aziz, Bahloul, Amel, Goodyear, Richard, Daviet, Laurent, Blanchard, Stéphane, Perfettini, Isabelle, Fath, Karl R., Shorte, Spencer, Reiners, Jan, Houdusse, Anne, Legrain, Pierre, Wolfrum, Uwe, Richardson, Guy, Petit, Christine
Publicado em 2002

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

Por Kamiya, Kazusaku, Michel, Vincent, Giraudet, Fabrice, Riederer, Brigitte, Foucher, Isabelle, Papal, Samantha, Perfettini, Isabelle, Le Gal, Sébastien, Verpy, Elisabeth, Xia, Weiliang, Seidler, Ursula, Georgescu, Maria-Magdalena, Avan, Paul, El-Amraoui, Aziz, Petit, Christine
Publicado em 2014

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

Por Desnos, Claire, Schonn, Jean-Sébastien, Huet, Sébastien, Tran, Viet Samuel, El-Amraoui, Aziz, Raposo, Graça, Fanget, Isabelle, Chapuis, Catherine, Ménasché, Gaël, de Saint Basile, Geneviève, Petit, Christine, Cribier, Sophie, Henry, Jean-Pierre, Darchen, François
Publicado em 2003

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

Por Sahly, Iman, Dufour, Eric, Schietroma, Cataldo, Michel, Vincent, Bahloul, Amel, Perfettini, Isabelle, Pepermans, Elise, Estivalet, Amrit, Carette, Diane, Aghaie, Asadollah, Ebermann, Inga, Lelli, Andrea, Iribarne, Maria, Hardelin, Jean-Pierre, Weil, Dominique, Sahel, José-Alain, El-Amraoui, Aziz, Petit, Christine
Publicado em 2012

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone–Rod Dystrophy

Por Lhériteau, Elsa, Petit, Lolita, Weber, Michel, Le Meur, Guylène, Deschamps, Jack-Yves, Libeau, Lyse, Mendes-Madeira, Alexandra, Guihal, Caroline, François, Achille, Guyon, Richard, Provost, Nathalie, Lemoine, Françoise, Papal, Samantha, El-Amraoui, Aziz, Colle, Marie-Anne, Moullier, Philippe, Rolling, Fabienne
Publicado em 2014

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

Por Dulon, Didier, Papal, Samantha, Patni, Pranav, Cortese, Matteo, Vincent, Philippe F.Y., Tertrais, Margot, Emptoz, Alice, Tlili, Abdelaziz, Bouleau, Yohan, Michel, Vincent, Delmaghani, Sedigheh, Aghaie, Alain, Pepermans, Elise, Alegria-Prevot, Olinda, Akil, Omar, Lustig, Lawrence, Avan, Paul, Safieddine, Saaid, Petit, Christine, El-Amraoui, Aziz
Publicado no J Clin Invest (2018)

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Por Michel, Vincent, Booth, Kevin T, Patni, Pranav, Cortese, Matteo, Azaiez, Hela, Bahloul, Amel, Kahrizi, Kimia, Labbé, Ménélik, Emptoz, Alice, Lelli, Andrea, Dégardin, Julie, Dupont, Typhaine, Aghaie, Asadollah, Oficjalska‐Pham, Danuta, Picaud, Serge, Najmabadi, Hossein, Smith, Richard J, Bowl, Michael R, Brown, Steven DM, Avan, Paul, Petit, Christine, El‐Amraoui, Aziz
Publicado no EMBO Mol Med (2017)

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Por Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Publicado no Eur J Hum Genet (2016)