Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marine Pons"'
Autor:
Yongping Chen, Gopinath Krishnan, Sepideh Parsi, Marine Pons, Veroniki Nikolaki, Lu Cao, Zuoshang Xu, Fen-Biao Gao
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-8 (2022)
Abstract Chromosome 3-linked frontotemporal dementia (FTD3) is caused by a gain-of-function mutation in CHMP2B, resulting in the production of a truncated toxic protein, CHMP2BIntron5. Loss-of-function mutations in spastin are the most common genetic
Externí odkaz:
https://doaj.org/article/ba76bacd1a124f0f95d28998e3b5a5e0
Autor:
Marine Pons, Silvia Prieto, Laetitia Miguel, Thierry Frebourg, Dominique Campion, Carles Suñé, Magalie Lecourtois
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-16 (2018)
Abstract TAR DNA-binding protein-43 (TDP-43) is a ubiquitously expressed DNA-/RNA-binding protein that has been linked to numerous aspects of the mRNA life cycle. Similar to many RNA-binding proteins, TDP-43 expression is tightly regulated through an
Externí odkaz:
https://doaj.org/article/f6f288da8ad94d54831052155860591d
Autor:
Marine Pons, Claire Soulard, Laurent Soustelle, Marie-Laure Parmentier, Yves Grau, Sophie Layalle
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 11 (2017)
The function of the nervous system in complex animals is reflected by the achievement of specific behaviors. For years in Drosophila, both simple and complex behaviors have been studied and their genetic bases have emerged. The neuromuscular junction
Externí odkaz:
https://doaj.org/article/de556c5ef9ff4f1d9f2845b8dfa018df
Autor:
Soojin Lee, Yong-Woo Jun, Gabriel R. Linares, Brandon Butler, Yeliz Yuva-Adyemir, Jill Moore, Gopinath Krishnan, Bryan Ruiz-Juarez, Manuel Santana, Marine Pons, Neal Silverman, Zhiping Weng, Justin K. Ichida, Fen-Biao Gao
Publikováno v:
Neuron. 111:1381-1390.e6
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Mutations in CHMP2B, encoding a protein in the endosomal sorting complexes required for transport (ESCRT) machinery, causes frontotemporal dementia linked to chromosome 3 (FTD3). FTD, the second most common form of pre-senile dementia, can also be ca
Autor:
Marine Pons, Magalie Lecourtois, Tracey Avequin, Laetitia Miguel, Dominique Campion, Thierry Frebourg
Publikováno v:
Brain Research
Brain Research, Elsevier, 2018, 1695, pp.1-9. ⟨10.1016/j.brainres.2018.05.021⟩
Brain Research, Elsevier, 2018, 1695, pp.1-9. ⟨10.1016/j.brainres.2018.05.021⟩
TDP-43 is a major disease-causing protein in amyotrophic lateral sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD). Today, >50 missense mutations in the TARDBP/TDP-43 gene have been described in patients with FTLD/ALS. However, the functio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0a27999daa827e850451f6a7a6b80aa
https://hal-normandie-univ.archives-ouvertes.fr/hal-02330526
https://hal-normandie-univ.archives-ouvertes.fr/hal-02330526
Autor:
Laetitia Miguel, Dominique Campion, Marine Pons, François Juge, Thierry Frebourg, Magalie Lecourtois, Tracey Avequin, Camille Miel
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (17), pp.3396-3408. ⟨10.1093/hmg/ddx229⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (17), pp.3396-3408. ⟨10.1093/hmg/ddx229⟩
TDP-43 is a critical RNA-binding factor associated with RNA metabolism. In the physiological state, maintaining normal TDP-43 protein levels is critical for proper physiological functions of the cells. As such, TDP-43 expression is tightly regulated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d19cfa31bb7409af49bd78f9827ada0
https://hal-normandie-univ.archives-ouvertes.fr/hal-02330529
https://hal-normandie-univ.archives-ouvertes.fr/hal-02330529