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Article

Isoform‐specific antibodies reveal distinct subcellular localizations of <scp>C</scp>9orf72 in amyotrophic lateral sclerosis

14 Jul 2015

Abstract excerpt

OBJECTIVE: A noncoding hexanucleotide repeat expansion in C9orf72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). It has been reported that the repeat expansion causes a downregulation of C9orf72 transcripts, suggesting that haploinsufficiency may contribute to disease pathogenesis. Two protein isoforms are generated from three alternatively spliced...

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PMID: 26174152
DOI: 10.1002/ana.24469

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