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Article

ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis

8 Dec 2023

Abstract excerpt

and the resulting loss of C9orf72 function are the key features of ~50% of inherited amyotrophic lateral sclerosis and frontotemporal dementia cases. However, the biological function of C9orf72 remains unclear. We previously found that C9orf72 can form a stable GTPase activating protein (GAP) complex with SMCR8 (Smith-Magenis chromosome region 8). Herein, we report that the C9orf72-SMCR8 complex is a major...

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PMID: 38064514
DOI: 10.1073/pnas.2220496120

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