CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

Autor: Ricardos Tabet, Laure Schaeffer, Fernande Freyermuth, Melanie Jambeau, Michael Workman, Chao-Zong Lee, Chun-Chia Lin, Jie Jiang, Karen Jansen-West, Hussein Abou-Hamdan, Laurent Désaubry, Tania Gendron, Leonard Petrucelli, Franck Martin, Clotilde Lagier-Tourenne

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

Repeat-associated non-AUG (RAN) translation contributes to the pathogenic mechanism of several microsatellite expansion diseases. Here the authors delineate the different steps involved in recruiting the ribosome to initiate G4C2 RAN translation to p

Externí odkaz: https://doaj.org/article/3426ab0a50b1414493710f574ce831d4

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

Autor: Chantal Sellier, Fernande Freyermuth, Ricardos Tabet, Tuan Tran, Fang He, Frank Ruffenach, Violaine Alunni, Herve Moine, Christelle Thibault, Adeline Page, Flora Tassone, Rob Willemsen, Matthew D. Disney, Paul J. Hagerman, Peter K. Todd, Nicolas Charlet-Berguerand

Publikováno v: Cell Reports, Vol 3, Iss 3, Pp 869-880 (2013)

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1. These expanded CGG repeats are transcribed and accumulate in nuclear RNA aggregate

Externí odkaz: https://doaj.org/article/1c7e384c7f084d4bbbe622f19b4549da

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

Autor: Tania F. Gendron, Mélanie Jambeau, Chao Zong Lee, Clotilde Lagier-Tourenne, Fernande Freyermuth, Laure Schaeffer, Laurent Désaubry, Franck Martin, Chun Chia Lin, Hussein Abou-Hamdan, Karen Jansen-West, Michael Workman, Ricardos Tabet, Leonard Petrucelli, Jie Jiang

Publikováno v: Nature Communications
Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-017-02643-5⟩
Nature Communications, Nature Publishing Group, 2018, 9 (1), ⟨10.1038/s41467-017-02643-5⟩
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

Expansion of G4C2 repeats in the C9ORF72 gene is the most prevalent inherited form of amyotrophic lateral sclerosis and frontotemporal dementia. Expanded transcripts undergo repeat-associated non-AUG (RAN) translation producing dipeptide repeat prote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34fabf734eb395c76ff60b6edaf646d5
https://doi.org/10.1038/s41467-017-02643-5

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

Autor: Violaine Alunni, Fernande Freyermuth, Hervé Moine, Rob Willemsen, Chantal Sellier, Flora Tassone, Fang He, Peter K. Todd, Tuan Tran, Paul J. Hagerman, Ricardos Tabet, Matthew D. Disney, Frank Ruffenach, Nicolas Charlet-Berguerand, Christelle Thibault, Adeline Page

Publikováno v: Cell Reports, Vol 3, Iss 3, Pp 869-880 (2013)
Cell Reports
Cell Reports, Elsevier Inc, 2013, 3 (3), pp.869-880. ⟨10.1016/j.celrep.2013.02.004⟩
Cell Reports, 3(3), 869-880. Cell Press

Summary Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1 . These expanded CGG repeats are transcribed and accumulate in nuclear RNA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e7f554a1a2fe1be2e6a2b3a2483c49
http://www.sciencedirect.com/science/article/pii/S2211124713000636

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

Autor: Julie Le Merrer, Eric Flatter, Hervé Moine, Wojciech Krezel, Laetitia Fouillen, Jérôme A.J. Becker, Ricardos Tabet, Pascale Koebel, Violaine Alunni, Nicolas Vitale, Dimitri Heintz, Dominique Muller, Doulaye Dembélé, Jean-Louis Mandel, Enora Moutin, Barbara Bardoni, Flora Tassone

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2016, 113 (26 ), pp.E3619-E3628. ⟨10.1073/pnas.1522631113 ⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2016, 113 (26), pp.E3619-E3628. ⟨10.1073/pnas.1522631113⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2016, 113 (26), pp.E3619-28
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2016, 113 (26 ), pp.E3619-E3628. ⟨10.1073/pnas.1522631113⟩
Proceedings of the National Academy of Sciences of the United States of America, vol 113, iss 26

Fragile X syndrome (FXS) is caused by the absence of the Fragile X Mental Retardation Protein (FMRP) in neurons. In the mouse, the lack of FMRP is associated with an excessive translation of hundreds of neuronal proteins, notably including postsynapt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6d12f3100a07abe54068d288e0c3eab
https://doi.org/10.1073/pnas.1522631113