Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Frédéric, Ebstein"'
Autor:
Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, Sandra Mercier, Virginie Vignard, Bertrand Isidor, Sébastien Küry, Frédéric Ebstein
Publikováno v:
Genes and Diseases, Vol 11, Iss 6, Pp 101130- (2024)
The recent advances in high throughput sequencing technology have drastically changed the practice of medical diagnosis, allowing for rapid identification of hundreds of genes causing human diseases. This unprecedented progress has made clear that mo
Externí odkaz:
https://doaj.org/article/4bb0294763224150ab0fc9342a19be84
Autor:
Virginie Vignard, Alban-Elouen Baruteau, Bérénice Toutain, Sandra Mercier, Bertrand Isidor, Richard Redon, Jean-Jacques Schott, Sébastien Küry, Stéphane Bézieau, Anne H. Monsoro-Burq, Frédéric Ebstein
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Neurodevelopmental proteasomopathies constitute a recently defined class of rare Mendelian disorders, arising from genomic alterations in proteasome-related genes. These alterations result in the dysfunction of proteasomes, which are multi-subunit pr
Externí odkaz:
https://doaj.org/article/8ec98747cd9e4fccb622ac05f5cea598
Autor:
Nuria Tubío-Santamaría, Ashok Kumar Jayavelu, Tina M. Schnoeder, Theresa Eifert, Chen-Jen Hsu, Florian Perner, Qirui Zhang, Daniela V. Wenge, Fynn M. Hansen, Joanna M. Kirkpatrick, Nidhi Jyotsana, Steven W. Lane, Björn von Eyss, Aniruddha J. Deshpande, Michael W. M. Kühn, Juerg Schwaller, Clemens Cammann, Ulrike Seifert, Frédéric Ebstein, Elke Krüger, Andreas Hochhaus, Michael Heuser, Alessandro Ori, Matthias Mann, Scott A. Armstrong, Florian H. Heidel
Publikováno v:
Molecular Cancer, Vol 22, Iss 1, Pp 1-21 (2023)
Abstract Pharmacologic targeting of chromatin-associated protein complexes has shown significant responses in KMT2A-rearranged (KMT2A-r) acute myeloid leukemia (AML) but resistance frequently develops to single agents. This points to a need for thera
Externí odkaz:
https://doaj.org/article/32a44bd3490c43d78d23fc64b13aaac5
Autor:
Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, Daniela Gerent Petry Piotto, Anna Kozlova, Maria Teresa Terreri, Anna Shcherbina, Andre Rastegar, Marta Rodrigues, Renan Pereira, Sophia Park, Bin Lin, Kat Uss, Sophie Möller, Ana Flávia da Silva Pina, Flavio Sztajnbok, Sofia Torreggiani, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Andrew J. Oler, Colton McNinch, Marietta M. de Guzman, Adriana Fonseca, Nicole Micheloni, Melissa Mariti Fraga, Sandro Félix Perazzio, Raphaela Goldbach-Mansky, Adriana A. de Jesus, Elke Krüger
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasom
Externí odkaz:
https://doaj.org/article/797414f038e44fa0bb0b536c59ac957d
Autor:
Zeinab Waad Sadiq, Annamaria Brioli, Ruba Al-Abdulla, Gonca Çetin, Jacqueline Schütt, Hugo Murua Escobar, Elke Krüger, Frédéric Ebstein
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionProteasome inhibition is first line therapy in multiple myeloma (MM). The immunological potential of cell death triggered by defects of the ubiquitin-proteasome system (UPS) and subsequent perturbations of protein homeostasis is, however,
Externí odkaz:
https://doaj.org/article/44ee289e92e843e7a537f94d8279f0b3
Autor:
Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100225- (2023)
Externí odkaz:
https://doaj.org/article/53490ee809494458b2dfb9c17cc26a84
Autor:
Gonca Çetin, Maja Studencka-Turski, Simone Venz, Eileen Schormann, Heike Junker, Elke Hammer, Uwe Völker, Frédéric Ebstein, Elke Krüger
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Microglia are the resident immune cells of the central nervous system (CNS) and play a major role in the regulation of brain homeostasis. To maintain their cellular protein homeostasis, microglia express standard proteasomes and immunoproteasomes (IP
Externí odkaz:
https://doaj.org/article/26329448f151440bac168b388391a784
Autor:
Angelique Sanchez Dafun, Dušan Živković, Stephen Adonai Leon-Icaza, Sophie Möller, Carine Froment, Delphine Bonnet, Adriana Almeida de Jesus, Laurent Alric, Muriel Quaranta-Nicaise, Audrey Ferrand, Céline Cougoule, Etienne Meunier, Odile Burlet-Schiltz, Frédéric Ebstein, Raphaela Goldbach-Mansky, Elke Krüger, Marie-Pierre Bousquet, Julien Marcoux
Publikováno v:
Cells, Vol 12, Iss 6, p 844 (2023)
The mammalian 20S catalytic core of the proteasome is made of 14 different subunits (α1-7 and β1-7) but exists as different subtypes depending on the cell type. In immune cells, for instance, constitutive catalytic proteasome subunits can be replac
Externí odkaz:
https://doaj.org/article/82a536a0dc864846a720b94a72410252
Autor:
Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 7, Pp 1-20 (2020)
Abstract The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurologi
Externí odkaz:
https://doaj.org/article/84cd90f8c2f147a682d5ff88f7111dd9
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Over thirty years have passed since the first description of ubiquitin-positive structures in the brain of patients suffering from Alzheimer’s disease. Meanwhile, the intracellular accumulation of ubiquitin-modified insoluble protein aggregates has
Externí odkaz:
https://doaj.org/article/9aa519351a614ba496ab4fe92708b171