CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutations in international cohorts, the authors also show...

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Autores principales:	Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/1861832d934c49a490f60c7997786e48
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spelling	oai:doaj.org-article:1861832d934c49a490f60c7997786e482021-12-02T17:32:20ZCCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia10.1038/ncomms112532041-1723https://doaj.org/article/1861832d934c49a490f60c7997786e482016-04-01T00:00:00Zhttps://doi.org/10.1038/ncomms11253https://doaj.org/toc/2041-1723Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutations in international cohorts, the authors also show that mutant CCNFgene product affects ubiquitination and protein degradation in cultured cells.Kelly L. WilliamsSimon ToppShu YangBradley SmithJennifer A. FifitaSadaf T. WarraichKatharine Y. ZhangNatalie FarrawellCaroline VanceXun HuAlessandra ChesiClaire S. LeblondAlbert LeeStephanie L. RaynerVinod SundaramoorthyCarol Dobson-StoneMark P. MolloyMarka van BlitterswijkDennis W. DicksonRonald C. PetersenNeill R. Graff-RadfordBradley F. BoeveMelissa E. MurrayCyril PottierEmily DonClaire WinnickEmily P. McCannAlison HoganHussein DaoudAnnie LevertPatrick A. DionJun MitsuiHiroyuki IshiuraYuji TakahashiJun GotoJason KostCinzia GelleraAthina Soragia GkaziJack MillerJoanne StocktonWilliam S. BrooksKaryn BoundyMeraida PolakJosé Luis Muñoz-BlancoJesús Esteban-PérezAlberto RábanoOrla HardimanKaren E. MorrisonNicola TicozziVincenzo SilaniJacqueline de BellerocheJonathan D. GlassJohn B. J. KwokGilles J. GuilleminRoger S. ChungShoji TsujiRobert H. BrownAlberto García-RedondoRosa RademakersJohn E. LandersAaron D. GitlerGuy A. RouleauNicholas J. ColeJustin J. YerburyJulie D. AtkinChristopher E. ShawGarth A. NicholsonIan P. BlairNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Kelly L. Williams Simon Topp Shu Yang Bradley Smith Jennifer A. Fifita Sadaf T. Warraich Katharine Y. Zhang Natalie Farrawell Caroline Vance Xun Hu Alessandra Chesi Claire S. Leblond Albert Lee Stephanie L. Rayner Vinod Sundaramoorthy Carol Dobson-Stone Mark P. Molloy Marka van Blitterswijk Dennis W. Dickson Ronald C. Petersen Neill R. Graff-Radford Bradley F. Boeve Melissa E. Murray Cyril Pottier Emily Don Claire Winnick Emily P. McCann Alison Hogan Hussein Daoud Annie Levert Patrick A. Dion Jun Mitsui Hiroyuki Ishiura Yuji Takahashi Jun Goto Jason Kost Cinzia Gellera Athina Soragia Gkazi Jack Miller Joanne Stockton William S. Brooks Karyn Boundy Meraida Polak José Luis Muñoz-Blanco Jesús Esteban-Pérez Alberto Rábano Orla Hardiman Karen E. Morrison Nicola Ticozzi Vincenzo Silani Jacqueline de Belleroche Jonathan D. Glass John B. J. Kwok Gilles J. Guillemin Roger S. Chung Shoji Tsuji Robert H. Brown Alberto García-Redondo Rosa Rademakers John E. Landers Aaron D. Gitler Guy A. Rouleau Nicholas J. Cole Justin J. Yerbury Julie D. Atkin Christopher E. Shaw Garth A. Nicholson Ian P. Blair CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
description	Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutations in international cohorts, the authors also show that mutant CCNFgene product affects ubiquitination and protein degradation in cultured cells.
format	article
author	Kelly L. Williams Simon Topp Shu Yang Bradley Smith Jennifer A. Fifita Sadaf T. Warraich Katharine Y. Zhang Natalie Farrawell Caroline Vance Xun Hu Alessandra Chesi Claire S. Leblond Albert Lee Stephanie L. Rayner Vinod Sundaramoorthy Carol Dobson-Stone Mark P. Molloy Marka van Blitterswijk Dennis W. Dickson Ronald C. Petersen Neill R. Graff-Radford Bradley F. Boeve Melissa E. Murray Cyril Pottier Emily Don Claire Winnick Emily P. McCann Alison Hogan Hussein Daoud Annie Levert Patrick A. Dion Jun Mitsui Hiroyuki Ishiura Yuji Takahashi Jun Goto Jason Kost Cinzia Gellera Athina Soragia Gkazi Jack Miller Joanne Stockton William S. Brooks Karyn Boundy Meraida Polak José Luis Muñoz-Blanco Jesús Esteban-Pérez Alberto Rábano Orla Hardiman Karen E. Morrison Nicola Ticozzi Vincenzo Silani Jacqueline de Belleroche Jonathan D. Glass John B. J. Kwok Gilles J. Guillemin Roger S. Chung Shoji Tsuji Robert H. Brown Alberto García-Redondo Rosa Rademakers John E. Landers Aaron D. Gitler Guy A. Rouleau Nicholas J. Cole Justin J. Yerbury Julie D. Atkin Christopher E. Shaw Garth A. Nicholson Ian P. Blair
author_facet	Kelly L. Williams Simon Topp Shu Yang Bradley Smith Jennifer A. Fifita Sadaf T. Warraich Katharine Y. Zhang Natalie Farrawell Caroline Vance Xun Hu Alessandra Chesi Claire S. Leblond Albert Lee Stephanie L. Rayner Vinod Sundaramoorthy Carol Dobson-Stone Mark P. Molloy Marka van Blitterswijk Dennis W. Dickson Ronald C. Petersen Neill R. Graff-Radford Bradley F. Boeve Melissa E. Murray Cyril Pottier Emily Don Claire Winnick Emily P. McCann Alison Hogan Hussein Daoud Annie Levert Patrick A. Dion Jun Mitsui Hiroyuki Ishiura Yuji Takahashi Jun Goto Jason Kost Cinzia Gellera Athina Soragia Gkazi Jack Miller Joanne Stockton William S. Brooks Karyn Boundy Meraida Polak José Luis Muñoz-Blanco Jesús Esteban-Pérez Alberto Rábano Orla Hardiman Karen E. Morrison Nicola Ticozzi Vincenzo Silani Jacqueline de Belleroche Jonathan D. Glass John B. J. Kwok Gilles J. Guillemin Roger S. Chung Shoji Tsuji Robert H. Brown Alberto García-Redondo Rosa Rademakers John E. Landers Aaron D. Gitler Guy A. Rouleau Nicholas J. Cole Justin J. Yerbury Julie D. Atkin Christopher E. Shaw Garth A. Nicholson Ian P. Blair
author_sort	Kelly L. Williams
title	CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
title_short	CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
title_full	CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
title_fullStr	CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
title_full_unstemmed	CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
title_sort	ccnf mutations in amyotrophic lateral sclerosis and frontotemporal dementia
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/1861832d934c49a490f60c7997786e48
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ccnfmutationsinamyotrophiclateralsclerosisandfrontotemporaldementia
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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