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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
- Source :
- Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
- Publication Year :
- 2016
- Publisher :
- Nature Portfolio, 2016.
-
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.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 7
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.1861832d934c49a490f60c7997786e48
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/ncomms11253