Zobrazeno 1 - 10
of 292
pro vyhledávání: '"Isabelle, Callebaut"'
Autor:
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)
Summary: Heterozygous mutations in SLC40A1, encoding a multi-pass membrane protein of the major facilitator superfamily known as ferroportin 1 (FPN1), are responsible for two distinct hereditary iron-overload diseases: ferroportin disease, which is a
Externí odkaz:
https://doaj.org/article/628bcda8ead241819061e4af36cf09ea
Autor:
Rodrigue Houngue, Lamba Omar Sangaré, Tchilabalo Dilezitoko Alayi, Aissatou Dieng, Tristan Bitard-Feildel, Claire Boulogne, Christian Slomianny, Cynthia Menonve Atindehou, Lucie Ayi Fanou, Yetrib Hathout, Isabelle Callebaut, Stanislas Tomavo
Publikováno v:
Cell Reports, Vol 43, Iss 1, Pp 113601- (2024)
Summary: Apicomplexan parasites possess specialized secretory organelles called rhoptries, micronemes, and dense granules that play a vital role in host infection. In this study, we demonstrate that TgREMIND, a protein found in Toxoplasma gondii, is
Externí odkaz:
https://doaj.org/article/ca72b0316c844ce5889846885c57736c
Autor:
Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales, Emmanuel Jacquemin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-4 (2021)
Abstract Background ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical treatment of these co
Externí odkaz:
https://doaj.org/article/2224e9e12283412f8afa4558224ab794
Autor:
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Shwachman-Diamond syndrome (SDS) is a leukemia predisposition disorder that is caused by defective release of eIF6 during ribosome assembly. Here the authors show that acquired somatic EIF6 mutations are frequent in the hematopoietic cells from indiv
Externí odkaz:
https://doaj.org/article/a48dd70c00914ebb83beed70d65306d7
Autor:
Florian Roisné-Hamelin, Sabrina Pobiega, Kévin Jézéquel, Simona Miron, Jordane Dépagne, Xavier Veaute, Didier Busso, Marie-Hélène Le Du, Isabelle Callebaut, Jean-Baptiste Charbonnier, Philippe Cuniasse, Sophie Zinn-Justin, Stéphane Marcand
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Different proteins localised at telomeres ensure chromosome end stability to prevent double strand-end break recognition. Here the authors provide new insight into how in S. cerevisiae the interaction between Rif2 and Rad50 inhibits MRX functions at
Externí odkaz:
https://doaj.org/article/26d231c1f074477282f58ddee8bde50e
Autor:
Sara Bitam, Ahmad Elbahnsi, Geordie Creste, Iwona Pranke, Benoit Chevalier, Farouk Berhal, Brice Hoffmann, Nathalie Servel, Danielle Tondelier, Aurelie Hatton, Christelle Moquereau, Mélanie Faria Da Cunha, Alexandra Pastor, Agathe Lepissier, Alexandre Hinzpeter, Jean-Paul Mornon, Guillaume Prestat, Aleksander Edelman, Isabelle Callebaut, Christine Gravier-Pelletier, Isabelle Sermet-Gaudelus
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract C407 is a compound that corrects the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein carrying the p.Phe508del (F508del) mutation. We investigated the corrector effect of c407 and its derivatives on F508del-CFTR protein. Mo
Externí odkaz:
https://doaj.org/article/c78c19594a5d4a81b0e0face0bb082c4
Autor:
Jérôme Hadjadj, Carla Noemi Castro, Maud Tusseau, Marie-Claude Stolzenberg, Fabienne Mazerolles, Nathalie Aladjidi, Martin Armstrong, Houman Ashrafian, Ioana Cutcutache, Georg Ebetsberger-Dachs, Katherine S. Elliott, Isabelle Durieu, Nicole Fabien, Mathieu Fusaro, Maximilian Heeg, Yohan Schmitt, Marc Bras, Julian C. Knight, Jean-Christophe Lega, Gaetan Lesca, Anne-Laure Mathieu, Marion Moreews, Baptiste Moreira, Audrey Nosbaum, Matthew Page, Cécile Picard, T. Ronan Leahy, Isabelle Rouvet, Ethel Ryan, Damien Sanlaville, Klaus Schwarz, Andrew Skelton, Jean-Francois Viallard, Sebastien Viel, Marine Villard, Isabelle Callebaut, Capucine Picard, Thierry Walzer, Stephan Ehl, Alain Fischer, Bénédicte Neven, Alexandre Belot, Frédéric Rieux-Laucat
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoi
Externí odkaz:
https://doaj.org/article/e099b2415a024179917630ee4d4f2ec2
Autor:
Benoit Roch, Vincent Abramowski, Olivier Etienne, Stefania Musilli, Pierre David, Jean-Baptiste Charbonnier, Isabelle Callebaut, François D Boussin, Jean-Pierre de Villartay
Publikováno v:
eLife, Vol 10 (2021)
We developed an Xrcc4M61R separation of function mouse line to overcome the embryonic lethality of Xrcc4-deficient mice. XRCC4M61R protein does not interact with Xlf, thus obliterating XRCC4-Xlf filament formation while preserving the ability to stab
Externí odkaz:
https://doaj.org/article/9f2b7f8042e7416dbee800b5e8f5606b
Autor:
Fanny Degrugillier, Stéphanie Simon, Abdel Aissat, Natascha Remus, Chadia Mekki, Xavier Decrouy, Aurélie Hatton, Alexandre Hinzpeter, Brice Hoffmann, Isabelle Sermet‐Gaudelus, Isabelle Callebaut, Pascale Fanen, Virginie Prulière‐Escabasse
Publikováno v:
Clinical Case Reports, Vol 7, Iss 11, Pp 2128-2134 (2019)
Abstract Severe chronic rhinosinusitis in children should alert clinicians and extensive CFTR genotyping should be performed. We propose that thorough clinical and functional assessment in severe chronic rhinosinusitis is valuable to discover rare mu
Externí odkaz:
https://doaj.org/article/a4e997dff86f435ba10f20494a32df8f
Autor:
Maname Benyelles, Harikleia Episkopou, Marie‐Françoise O'Donohue, Laëtitia Kermasson, Pierre Frange, Florian Poulain, Fatma Burcu Belen, Meltem Polat, Christine Bole‐Feysot, Francina Langa‐Vives, Pierre‐Emmanuel Gleizes, Jean‐Pierre de Villartay, Isabelle Callebaut, Anabelle Decottignies, Patrick Revy
Publikováno v:
EMBO Molecular Medicine, Vol 11, Iss 7, Pp 1-19 (2019)
Abstract PARN, poly(A)‐specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic PARN mutations were associated with Høyeraal–Hreidarsson (HH) syndrome, a rare t
Externí odkaz:
https://doaj.org/article/6b17fc6a05d04cf4a3910e137cab5d9f