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C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease

7 Mar 2017

Abstract excerpt

The discovery that expansion of a hexanucleotide repeat within a noncoding region of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia raised questions about C9orf72 protein function and potential disease relevance. The major predicted structural feature of the C9orf72 protein is a DENN (differentially expressed in normal and neoplastic cells) domain. As DENN domains are best...

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PMID: 28266105
DOI: 10.1111/tra.12477

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C9orf72: At the intersection of lysosome cell biology and neurodegenerative diseasePMID 28266105Read ↗

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