Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marlène Le Tertre"'
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:
Carsten Berndt, Hamed Alborzinia, Vera Skafar Amen, Scott Ayton, Uladzimir Barayeu, Alexander Bartelt, Hülya Bayir, Christina M. Bebber, Kivanc Birsoy, Jan P. Böttcher, Simone Brabletz, Thomas Brabletz, Ashley R. Brown, Bernhard Brüne, Giorgia Bulli, Alix Bruneau, Quan Chen, Gina M. DeNicola, Tobias P. Dick, Ayelén Distéfano, Scott J. Dixon, Jan B. Engler, Julia Esser-von Bieren, Maria Fedorova, José Pedro Friedmann Angeli, Manuel A. Friese, Dominic C. Fuhrmann, Ana J. García-Sáez, Karolina Garbowicz, Magdalena Götz, Wei Gu, Linda Hammerich, Behrouz Hassannia, Xuejun Jiang, Aicha Jeridi, Yun Pyo Kang, Valerian E. Kagan, David B. Konrad, Stefan Kotschi, Peng Lei, Marlène Le Tertre, Sima Lev, Deguang Liang, Andreas Linkermann, Carolin Lohr, Svenja Lorenz, Tom Luedde, Axel Methner, Bernhard Michalke, Anna V. Milton, Junxia Min, Eikan Mishima, Sebastian Müller, Hozumi Motohashi, Martina U. Muckenthaler, Shohei Murakami, James A. Olzmann, Gabriela Pagnussat, Zijan Pan, Thales Papagiannakopoulos, Lohans Pedrera Puentes, Derek A. Pratt, Bettina Proneth, Lukas Ramsauer, Raphael Rodriguez, Yoshiro Saito, Felix Schmidt, Carina Schmitt, Almut Schulze, Annemarie Schwab, Anna Schwantes, Mariluz Soula, Benedikt Spitzlberger, Brent R. Stockwell, Leonie Thewes, Oliver Thorn-Seshold, Shinya Toyokuni, Wulf Tonnus, Andreas Trumpp, Peter Vandenabeele, Tom Vanden Berghe, Vivek Venkataramani, Felix C.E. Vogel, Silvia von Karstedt, Fudi Wang, Frank Westermann, Chantal Wientjens, Christoph Wilhelm, Michele Wölk, Katherine Wu, Xin Yang, Fan Yu, Yilong Zou, Marcus Conrad
Publikováno v:
Redox Biology, Vol 75, Iss , Pp 103211- (2024)
Ferroptosis is a pervasive non-apoptotic form of cell death highly relevant in various degenerative diseases and malignancies. The hallmark of ferroptosis is uncontrolled and overwhelming peroxidation of polyunsaturated fatty acids contained in membr
Externí odkaz:
https://doaj.org/article/704bf377a6004407992c3cd92011cf30
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6412 (2021)
The negatively charged Asp325 residue has proved to be essential for iron export by human (HsFPN1) and primate Philippine tarsier (TsFpn) ferroportin, but its exact role during the iron transport cycle is still to be elucidated. It has been posited a
Externí odkaz:
https://doaj.org/article/566215ce657840eeb2a8e3e928880f6d
Autor:
Gaëlle Richard, Jian-Min Chen, Yann Fichou, Isabelle Callebaut, Chandran Ka, Léonie Vigneron, Gérald Le Gac, Claude Férec, Marlène Le Tertre, Loann Raud
Publikováno v:
Transfusion. 61:2468-2476
Background Although D variant phenotype is known to be due to genetic defects, including rare missense single nucleotide variants (SNVs), within the RHD gene, few studies have addressed the molecular and cellular mechanisms driving this altered expre
Autor:
Matthew Mort, Gérald Le Gac, Jin-Huan Lin, Shun-Jiang Deng, Chandran Ka, David N. Cooper, Wen-Bin Zou, Yann Fichou, Arnaud Boulling, Emmanuelle Masson, Jian-Min Chen, Isabelle Berlivet, Matthew J. Hayden, Zhuan Liao, Xin-Ying Tang, Loann Raud, Raphaël Leman, Marlène Le Tertre, Zhao-Shen Li, Claude Férec, Claude Houdayer
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩
International audience; It has long been known that canonical 5' splice site (5'SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5'SSs capable of generating wild-type transcripts in the case o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fc6fdcd950314e38c8b1e213f1124
https://hal.inrae.fr/hal-02947010
https://hal.inrae.fr/hal-02947010
Autor:
Gérald Le Gac, Chandran Ka, Isabelle Berlivet, Kévin Uguen, Loann Raud, Yann Fichou, Claude Férec, Gaëlle Richard, Jian-Min Chen, Marlène Le Tertre, Isabelle Gourlaouen
Publikováno v:
Blood Cells, Molecules, and Diseases. 87:102527
Hemochromatosis type 4, or ferroportin disease, is considered as the second leading cause of primary iron overload after HFE-related hemochromatosis. The disease, which is predominantly associated with missense variations in the SLC40A1 gene, is char
Autor:
Matthew J. Hayden, Shun-Jiang Deng, Claude Férec, Gérald Le Gac, Xin-Ying Tang, Zhuan Liao, Loann Raud, Isabelle Berlivet, David N. Cooper, Marlène Le Tertre, Chandran Ka, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Jin-Huan Lin, Zhao-Shen Li, Matthew Mort, Arnaud Boulling, Jian-Min Chen
It has long been known that canonical 5’ splice site (5’SS) GT>GC mutations may be compatible with normal splicing. However, to date, the true scale of canonical 5’SS GT>GC mutations generating wild-type transcripts, both in the context of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dddfcc21f0a28f7b2f9f239dbab665a
https://doi.org/10.1101/479493
https://doi.org/10.1101/479493