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Publication : The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.

First Author  Suzuki N Year  2013
Journal  Nat Neurosci Volume  16
Issue  12 Pages  1725-7
PubMed ID  24185425 Mgi Jnum  J:207696
Mgi Id  MGI:5559393 Doi  10.1038/nn.3566
Citation  Suzuki N, et al. (2013) The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD. Nat Neurosci 16(12):1725-7
abstractText  Using transgenic mice harboring a targeted LacZ insertion, we studied the expression pattern of the C9ORF72 mouse ortholog (3110043O21Rik). Unlike most genes that are mutated in amyotrophic lateral sclerosis (ALS), which are ubiquitously expressed, the C9ORF72 ortholog was most highly transcribed in the neuronal populations that are sensitive to degeneration in ALS and frontotemporal dementia. Thus, our results provide a potential explanation for the cell type specificity of neuronal degeneration caused by C9ORF72 mutations.
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