These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway. Ciura S; Sellier C; Campanari ML; Charlet-Berguerand N; Kabashi E Autophagy; 2016 Aug; 12(8):1406-8. PubMed ID: 27245636 [TBL] [Abstract][Full Text] [Related]
3. SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis. Lan Y; Sullivan PM; Hu F Autophagy; 2019 May; 15(5):871-885. PubMed ID: 30696333 [TBL] [Abstract][Full Text] [Related]
4. A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Yang M; Liang C; Swaminathan K; Herrlinger S; Lai F; Shiekhattar R; Chen JF Sci Adv; 2016 Sep; 2(9):e1601167. PubMed ID: 27617292 [TBL] [Abstract][Full Text] [Related]
5. Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD. Starr A; Sattler R Brain Res; 2018 Aug; 1693(Pt A):98-108. PubMed ID: 29453960 [TBL] [Abstract][Full Text] [Related]
6. An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD. Bauer CS; Cohen RN; Sironi F; Livesey MR; Gillingwater TH; Highley JR; Fillingham DJ; Coldicott I; Smith EF; Gibson YB; Webster CP; Grierson AJ; Bendotti C; De Vos KJ Acta Neuropathol; 2022 Sep; 144(3):437-464. PubMed ID: 35876881 [TBL] [Abstract][Full Text] [Related]
7. C9orf72 in myeloid cells suppresses STING-induced inflammation. McCauley ME; O'Rourke JG; Yáñez A; Markman JL; Ho R; Wang X; Chen S; Lall D; Jin M; Muhammad AKMG; Bell S; Landeros J; Valencia V; Harms M; Arditi M; Jefferies C; Baloh RH Nature; 2020 Sep; 585(7823):96-101. PubMed ID: 32814898 [TBL] [Abstract][Full Text] [Related]
8. The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases. Tang D; Sheng J; Xu L; Yan C; Qi S Autophagy; 2020 Aug; 16(8):1542-1543. PubMed ID: 32521185 [TBL] [Abstract][Full Text] [Related]
9. Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models. Liang C; Shao Q; Zhang W; Yang M; Chang Q; Chen R; Chen JF Hum Mol Genet; 2019 Dec; 28(23):3940-3953. PubMed ID: 31625563 [TBL] [Abstract][Full Text] [Related]
10. C9orf72 Dipeptide Repeats Cause Selective Neurodegeneration and Cell-Autonomous Excitotoxicity in Xu W; Xu J J Neurosci; 2018 Aug; 38(35):7741-7752. PubMed ID: 30037833 [TBL] [Abstract][Full Text] [Related]
11. Shao Q; Yang M; Liang C; Ma L; Zhang W; Jiang Z; Luo J; Lee JK; Liang C; Chen JF Autophagy; 2020 Sep; 16(9):1635-1650. PubMed ID: 31847700 [TBL] [Abstract][Full Text] [Related]
12. C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy. Corbier C; Sellier C Small GTPases; 2017 Jul; 8(3):181-186. PubMed ID: 27494456 [TBL] [Abstract][Full Text] [Related]
13. Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a. Tang D; Sheng J; Xu L; Zhan X; Liu J; Jiang H; Shu X; Liu X; Zhang T; Jiang L; Zhou C; Li W; Cheng W; Li Z; Wang K; Lu K; Yan C; Qi S Proc Natl Acad Sci U S A; 2020 May; 117(18):9876-9883. PubMed ID: 32303654 [TBL] [Abstract][Full Text] [Related]
14. Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish. Butti Z; Pan YE; Giacomotto J; Patten SA Commun Biol; 2021 Jun; 4(1):792. PubMed ID: 34172817 [TBL] [Abstract][Full Text] [Related]
15. Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD. Su MY; Fromm SA; Zoncu R; Hurley JH Nature; 2020 Sep; 585(7824):251-255. PubMed ID: 32848248 [TBL] [Abstract][Full Text] [Related]
16. Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies. Davidson YS; Robinson AC; Rollinson S; Pickering-Brown S; Xiao S; Robertson J; Mann DMA Amyotroph Lateral Scler Frontotemporal Degener; 2018 Feb; 19(1-2):102-111. PubMed ID: 28766957 [TBL] [Abstract][Full Text] [Related]
18. Molecular interactions between C9ORF72 and SMCR8: A local energetic frustration perspective. Kumar V Biochem Biophys Res Commun; 2021 Sep; 570():1-7. PubMed ID: 34256240 [TBL] [Abstract][Full Text] [Related]
19. C9orf72 hexanucleotide repeat expansion leads to altered neuronal and dendritic spine morphology and synaptic dysfunction. Huber N; Hoffmann D; Giniatullina R; Rostalski H; Leskelä S; Takalo M; Natunen T; Solje E; Remes AM; Giniatullin R; Hiltunen M; Haapasalo A Neurobiol Dis; 2022 Jan; 162():105584. PubMed ID: 34915153 [TBL] [Abstract][Full Text] [Related]
20. Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture. Nörpel J; Cavadini S; Schenk AD; Graff-Meyer A; Hess D; Seebacher J; Chao JA; Bhaskar V PLoS Biol; 2021 Jul; 19(7):e3001344. PubMed ID: 34297726 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]