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Nat Neurosci. 2013 Dec;16(12):1725-7. doi: 10.1038/nn.3566. Epub 2013 Nov 3.

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

Author information

1
1] The Howard Hughes Medical Institute, Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, USA. [2].

Abstract

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.

PMID:
24185425
PMCID:
PMC4397902
DOI:
10.1038/nn.3566
[Indexed for MEDLINE]
Free PMC Article

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