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

Naoki Suzuki, Asif M. Maroof, Florian T. Merkle, Kathryn Koszka, Atsushi Intoh, Ian Armstrong, Rob Moccia, Brandi N. Davis-Dusenbery, Kevin Eggan

Research output: Contribution to journalArticle

40 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1725-1727
Number of pages3
JournalNature Neuroscience
Volume16
Issue number12
DOIs
Publication statusPublished - 2013 Nov 6
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)

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    Suzuki, N., Maroof, A. M., Merkle, F. T., Koszka, K., Intoh, A., Armstrong, I., Moccia, R., Davis-Dusenbery, B. N., & Eggan, K. (2013). The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD. Nature Neuroscience, 16(12), 1725-1727. https://doi.org/10.1038/nn.3566