Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD

Mutation of C9orf72 is the most prevalent defect associated with amyotrophic lateral sclerosis and frontotemporal degeneration 1 . Together with hexanucleotide-repeat expansion 2 , 3 , haploinsufficiency of C9orf72 contributes to neuronal dysfunction 4 – 6 . Here we determine the structure of the C9...

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Veröffentlicht in:	Nature (London) 2020-09, Vol.585 (7824), p.251-255
Hauptverfasser:	Su, Ming-Yuan, Fromm, Simon A., Zoncu, Roberto, Hurley, James H.
Format:	Artikel
Sprache:	eng
Schlagworte:	101/28 101/58 631/378/1689/1285 631/535/1258/1259 Adaptor Proteins, Signal Transducing - chemistry Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism Amino acid starvation Amino acids Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism Analysis Autophagy-Related Proteins - chemistry Autophagy-Related Proteins - deficiency Autophagy-Related Proteins - metabolism Autophagy-Related Proteins - ultrastructure Binding sites C9orf72 Protein - chemistry C9orf72 Protein - genetics C9orf72 Protein - metabolism Carrier Proteins - chemistry Carrier Proteins - genetics Carrier Proteins - metabolism Carrier Proteins - ultrastructure Cryoelectron Microscopy Degeneration Electron microscopy Frontotemporal dementia Frontotemporal Dementia - genetics Frontotemporal Dementia - metabolism Genetic aspects GTPase-activating protein Guanosine triphosphatase Haploinsufficiency Haplotypes Humanities and Social Sciences Humans Hypotheses Identification and classification Localization Lysosomes - metabolism Microscopy Models, Molecular multidisciplinary Multiprotein Complexes - chemistry Multiprotein Complexes - genetics Multiprotein Complexes - metabolism Multiprotein Complexes - ultrastructure Mutant Proteins - genetics Mutant Proteins - metabolism Mutation Mutation (Biology) Protein Domains Proteins Science Science (multidisciplinary) Structure
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