The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy
Open accessAbstract
A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). C9orf72 encodes two C9orf72 protein isoforms of unclear function. Reduced levels of C9orf72 expression have been reported in C9ALS/FTD patients, and although C9orf72 haploinsufficiency has been proposed to contribute to C9ALS/FTD, its significance is not yet clear. Here, we report that C9orf72 interacts with Rab1a and the Unc‐51‐like kinase 1 (ULK1) autophagy initiation complex. As a Rab1a effector, C9orf72 controls initiation of autophagy by regulating the Rab1a‐dependent trafficking of the ULK1 autophagy initiation complex to the phagophore. Accordingly, reduction of C9orf72 expression in cell lines and primary neurons attenuated autophagy and caused accumulation of p62‐positive puncta reminiscent of the p62 pathology observed in C9ALS/FTD patients. Finally, basal levels of autophagy were markedly reduced in C9ALS/FTD patient‐derived iNeurons. Thus, our data identify C9orf72 as a novel Rab1a effector in the regulation of autophagy and indicate that C9orf72 haploinsufficiency and associated reductions in autophagy might be the underlying cause of C9ALS/FTD‐associated p62 pathology. C9ALS/FTD‐associated C9orf72 is a Rab1a effector that controls initiation of autophagy by regulating ULK1 complex trafficking. Disruption of C9orf72 function inhibits autophagy and mimics the p62 pathology found in C9ALS/FTD patients. C9ALS/FTD iNeurons display reduced autophagy. ALS/FTD‐associated C9orf72 is a Rab1a effector that controls initiation of autophagy by regulating ULK1 complex trafficking.
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Through interactions with ULK1 and RAB1A, C9orf72 promotes autophagy initiation.
“Additionally, through its interactions with ULK1 and RAB1A, a GTP-binding protein involved in vesicular protein trafficking and MTOR regulation [151,152], C9orf72 promotes autophagy initiation [153].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [153]
C9orf72 mutations are associated with reduced basal autophagy and enhanced sensitivity to autophagy inhibitors in human iPSC-derived neurons.
“C9orf72 mutations are associated with reduced basal autophagy and enhanced sensitivity to autophagy inhibitors in human iPSC-derived neurons [153,178].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [153]
Because wild-type C9orf72 is involved in central aspects of autophagosomes formation, maturation, and trafficking, it is likely that perturbations in autophagy contribute to the detrimental action of mutated C9orf72 in motor neuron dysfunction.
“Because wild‐type C9orf72 is involved in central aspects of autophagosomes formation, maturation, and trafficking, it is likely that perturbations in autophagy contribute to the detrimental action of mutated C9orf72 in motor neuron dysfunction (Webster et al, 2016; Ho et al, 2019).”
From Autophagy in major human diseases (2021) · cites this paper as Webster et al, 2016
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Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS
Kumar, V., Hasan, G. M., & Hassan, M. I. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00711 · Cited by 64 · see citing works
- Authors
- Webster, C. P., Smith, E. F., Bauer, C. S., Moller, A., Hautbergue, G. M., Ferraiuolo, L., Myszczynska, M. A., Higginbottom, A., Walsh, M. J., Whitworth, A. J., Kaspar, B. K., Meyer, K., Shaw, P. J., Grierson, A. J., & De Vos, K. J.
- Affiliations
- University of Sheffield (GB)
- Nationwide Children's Hospital (US)
- ORCID
- Venue
- The EMBO Journal
- Published
- 2016-06-22
- Volume
- 35
- Issue
- 15
- Pages
- 1656-1676
- ISSN
- 0261-4189 (ISSN-L)
- 1460-2075
- PMC
- PMC4969571
- OpenAlex
- W2467513012
- Cited by
- 404
- References
- 75
- Citations by year
- 2026: 24 · 2025: 25 · 2024: 35 · 2023: 36 · 2022: 29 · 2021: 50 · 2020: 55 · 2019: 47 · 2018: 46 · 2017: 43 · 2016: 13 · 2015: 1
- FWCI
- 37.35
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- The EMBO Journal (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Funders
- Thierry Latran Foundation (RoCIP)
- Medical Research Council (MR/K005146/1, MR/M013251/1)
- Alzheimer's Society (260 (AS‐PG‐15‐023))
- University of Sheffield (Moody Family Endowment)
- European Union Seventh Framework Programme (EuroMOTOR 259867, 303101)
- Motor Neurone Disease Association (DeVos/Oct13/870‐892)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- C9orf72, Rab1A, ULK1 complex, autophagy initiation, amyotrophic lateral sclerosis, frontotemporal dementia, haploinsufficiency, phagophore, induced neurons, protein isoforms
- MeSH terms
- Autophagy-Related Protein-1 Homolog, C9orf72 Protein, Autophagy, Cell Physiological Phenomena, Cells, Cultured, Humans, Neurons, Proteins, rab1 GTP-Binding Proteins, Intracellular Signaling Peptides and Proteins, Frontotemporal Dementia
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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