Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Chantal Weber"'
Autor:
Marina Vitoria Gomes, Pauline Landwerlin, Marie-Laure Diebold-Durand, Tajith B. Shaik, Alexandre Durand, Edouard Troesch, Chantal Weber, Karl Brillet, Marianne Victoria Lemée, Christophe Decroos, Ludivine Dulac, Pierre Antony, Erwan Watrin, Eric Ennifar, Christelle Golzio, Christophe Romier
Publikováno v:
Cell Reports, Vol 43, Iss 9, Pp 114656- (2024)
Summary: Cohesin is key to eukaryotic genome organization and acts throughout the cell cycle in an ATP-dependent manner. The mechanisms underlying cohesin ATPase activity are poorly understood. Here, we characterize distinct steps of the human cohesi
Externí odkaz:
https://doaj.org/article/ca753347721b4c14a2cbed22d5bf7651
Autor:
Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Kinesins regulate intracellular transport and microtubule dynamics. Here, the authors show that KIF21B variants in humans associate with corpus callosum agenesis and microcephaly. Using mice and zebrafish, they showed the cellular mechanisms altered
Externí odkaz:
https://doaj.org/article/85fa7763d73b4163bd09f2ee5a5c74a8
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
Background: Social communication (SC) includes the use and interpretation of verbal and non-verbal messages within a social context and thus requires more than knowledge of language. Social communication skills are essential for connecting and engagi
Externí odkaz:
https://doaj.org/article/c2e2292b5c2342578b8f706db4f1af71
Autor:
Alice Karam, Lars Tebbe, Chantal Weber, Nadia Messaddeq, Laurette Morlé, Pascal Kessler, Uwe Wolfrum, Yvon Trottier
Publikováno v:
Neurobiology of Disease, Vol 80, Iss , Pp 15-28 (2015)
Huntington's disease (HD) is a neurodegenerative disorder caused by the toxic expansion of polyglutamine in the Huntingtin (HTT) protein. The pathomechanism is complex and not fully understood. Increasing evidence indicates that the loss of normal pr
Externí odkaz:
https://doaj.org/article/5ea3b120b8c14d8da8a1153622d2761e
Autor:
Marina G. Yefimova, Nadia Messaddeq, Alice Karam, Carine Jacquard, Chantal Weber, Laurent Jonet, Uwe Wolfrum, Jean-Claude Jeanny, Yvon Trottier
Publikováno v:
Neurobiology of Disease, Vol 40, Iss 1, Pp 311-324 (2010)
In neurodegenerative disorders caused by polyglutamine (polyQ) expansion, polyQ toxicity is thought to trigger a linear cascade of successive degenerative events leading to neuronal death. To understand how neurons cope with polyQ toxicity, we studie
Externí odkaz:
https://doaj.org/article/6edc4f3a318f4c6587fb525b143f74f3
Autor:
Karine Merienne, James Friedman, Masayuki Akimoto, Gretta Abou-Sleymane, Chantal Weber, Anand Swaroop, Yvon Trottier
Publikováno v:
Neurobiology of Disease, Vol 25, Iss 3, Pp 571-581 (2007)
We have approached the role of cellular stress in neurodegenerative diseases caused by polyglutamine expansion (polyQ) in the context of Spinocerebellar ataxia type 7 (SCA7) that includes retinal degeneration. Using the R7E mouse, in which polyQ-atax
Externí odkaz:
https://doaj.org/article/84a51c9b977f4dfcb3cd189c5200a3f8
Autor:
Yvon Trottier, Géraldine Cancel, Isabelle An-Gourfinkel, Yves Lutz, Chantal Weber, Alexis Brice, Etienne Hirsch, Jean-Louis Mandel
Publikováno v:
Neurobiology of Disease, Vol 5, Iss 5, Pp 335-347 (1998)
Spinocerebellar ataxia type 3 or Machado–Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disorder caused by an unstable and expanded CAG trinucleotide repeat that leads to the expansion of a polyglutamine tract in a protein of
Externí odkaz:
https://doaj.org/article/0c7b9794dad2471fb5d48f19e572968f
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e14311 (2010)
In Huntington's disease (HD), mutant huntingtin (mHtt) disrupts the normal transcriptional program of disease neurons by altering the function of several gene expression regulators such as Sp1. REST (Repressor Element-1 Silencing Transcription Factor
Externí odkaz:
https://doaj.org/article/4f432c20f2224ee2b7447625d3b0d4fa
Autor:
Chantal Weber, Nadia Messaddeq, Antoine Hache, Frédéric Doussau, Aurélie Eisenmann, Anna Niewiadomska-Cimicka, Marie-France Champy, Yvon Trottier, Michel Roux, Julien Flament, Erwan Grandgirard, Hamid Meziane, Céline Keime, Binnaz Yalcin, Philippe Isope, Alice Karam, Jean-Baptiste Perot, Hoa Huu Phuc Nguyen, Françoise Piguet, Emmanuel Brouillet, Ariana Novati
Publikováno v:
Journal of Neuroscience
Journal of Neuroscience, 2021, 41 (22), pp.4910-4936. ⟨10.1523/JNEUROSCI.1882-20.2021⟩
The journal of neuroscience
J Neurosci
Journal of Neuroscience, Society for Neuroscience, 2021, 41 (22), pp.4910-4936. ⟨10.1523/JNEUROSCI.1882-20.2021⟩
Journal of Neuroscience, 2021, 41 (22), pp.4910-4936. ⟨10.1523/JNEUROSCI.1882-20.2021⟩
The journal of neuroscience
J Neurosci
Journal of Neuroscience, Society for Neuroscience, 2021, 41 (22), pp.4910-4936. ⟨10.1523/JNEUROSCI.1882-20.2021⟩
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease mainly characterized by motor incoordination because of progressive cerebellar degeneration. SCA7 is caused by polyglutamine expansion in ATXN7, a subunit of the transcrip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea85b30c6dc1216aedad93c59f1bc02e
https://hal.science/hal-03378998
https://hal.science/hal-03378998
Autor:
Petra J. G. Zwijnenburg, Kirsty McWalter, Sonal Mahida, Delphine Héron, Frédéric Saudou, Hélène Vitet, Anna Chassevent, José Rivera Alvarez, Carlos A. Bacino, Juliette D. Godin, Christel Thauvin-Robinet, Chantal Weber, Laure Asselin, Caroline Nava, Christelle Golzio, Neil A. Hanchard, Christel Depienne, Peggy Tilly, Camille S. Bonnet, Cyril Mignot, Gladys Zapata, Amy Dameron, Marjan M. Weiss, Solveig Heide, Laurence Faivre, Haley Streff, Agnès Rastetter, Kristin W. Barañano
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-16294-6⟩
Nature Communications, 11, 1, pp. 1-18
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Nature Communications, 11, 1-18
Asselin, L, Rivera Alvarez, J, Heide, S, Bonnet, C S, Tilly, P, Vitet, H, Weber, C, Bacino, C A, Baranaño, K, Chassevent, A, Dameron, A, Faivre, L, Hanchard, N A, Mahida, S, McWalter, K, Mignot, C, Nava, C, Rastetter, A, Streff, H, Thauvin-Robinet, C, Weiss, M M, Zapata, G, Zwijnenburg, P J G, Saudou, F, Depienne, C, Golzio, C, Héron, D & Godin, J D 2020, ' Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity ', Nature Communications, vol. 11, no. 1, 2441 . https://doi.org/10.1038/s41467-020-16294-6
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-16294-6⟩
Nature Communications, 11, 1, pp. 1-18
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Nature Communications, 11, 1-18
Asselin, L, Rivera Alvarez, J, Heide, S, Bonnet, C S, Tilly, P, Vitet, H, Weber, C, Bacino, C A, Baranaño, K, Chassevent, A, Dameron, A, Faivre, L, Hanchard, N A, Mahida, S, McWalter, K, Mignot, C, Nava, C, Rastetter, A, Streff, H, Thauvin-Robinet, C, Weiss, M M, Zapata, G, Zwijnenburg, P J G, Saudou, F, Depienne, C, Golzio, C, Héron, D & Godin, J D 2020, ' Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity ', Nature Communications, vol. 11, no. 1, 2441 . https://doi.org/10.1038/s41467-020-16294-6
KIF21B is a kinesin protein that promotes intracellular transport and controls microtubule dynamics. We report three missense variants and one duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malformations,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2280cfa8349226d6a47d71980798ba85
https://hal.archives-ouvertes.fr/hal-03373809
https://hal.archives-ouvertes.fr/hal-03373809