학술논문
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Document Type
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
Source
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Subject
Language
English
ISSN
2041-1723
Abstract
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.