1 | C9orf72, SMCR8
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| The C9orf72-SMCR8 complex suppresses primary ciliogenesis as a RAB8A GAP.
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| Tang D, Bao H, Qi S.
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| Autophagy. Jan 31:1-3. doi: 10.1080/15548627.2024.2311541. Epub ahead of print. 2024
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2 | C9orf72, SMCR8
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| C9orf72 protein quality control by UBR5-mediated heterotypic ubiquitin chains.
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| Jülg J, Edbauer D, Behrends C
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| EMBO Rep. Aug 3;24(8):e55895. doi: 10.15252/embr.202255895. Epub 2023 Jun 15. 2023
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3 | C9orf72, SMCR8, WDR41
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| Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis
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| Chong ZZ, Menkes DL, Souayah N.
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| Rev Neurosci. Aug 2;35(1):85-97. doi: 10.1515/revneuro-2023-0060 2023
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4 | C9orf72, SMCR8, WDR41
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| The progress in C9orf72 research: ALS/FTD pathogenesis, functions and structure
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| Jiang L, Zhang T, Lu K, Qi S.
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| Small GTPases Jan;13(1):56-76. doi: 10.1080/21541248.2021.1892443. Epub 2021 Mar 5. 2022
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5 | C9orf72, SMCR8, WDR41
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| Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.
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| Nörpel J, Cavadini S, Schenk AD, Graff-Meyer A, Hess D, Seebacher J, Chao JA, Bhaskar V.
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| PLoS Biol. Jul 23;19(7):e3001344. doi: 10.1371/journal.pbio.3001344 2021
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6 | C9orf72, SMCR8, WDR41
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| The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases
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| Tang D, Sheng J, Xu L, Yan C, Qi S.
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| Autophagy. Aug;16(8):1542-1543. doi: 10.1080/15548627.2020.1779473. Epub 2020 Jun 17 2020
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7 | SMCR8
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| Multifaceted role of SMCR8 as autophagy regulator.
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| Jung J, Behrends C.
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| Small GTPases. Jan;11(1):53-61. doi: 10.1080/21541248.2017.1346553. Epub 2017 Oct 3 2020
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8 | C9orf72, SMCR8, WDR41
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| Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD
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| Su MY, Fromm SA, Zoncu R, Hurley JH.
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| Nature. Sep;585(7824):251-255. doi: 10.1038/s41586-020-2633-x. Epub 2020 Aug 26. 2020
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9 | C9orf72, MTOR, SMCR8
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| SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis
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| Lan Y, Sullivan PM, Hu F.
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| Autophagy. May;15(5):871-885. doi: 10.1080/15548627.2019.1569914. Epub 2019 Jan 29 2019
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10 | C9orf72, SMCR8, WDR41
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| WDR41 supports lysosomal response to changes in amino acid availability.
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| Amick J, Tharkeshwar AK, Amaya C, Ferguson SM.
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| Mol Biol Cell. Sep 1;29(18):2213-2227. doi: 10.1091/mbc.E17-12-0703. Epub 2018 Jul 11. 2018
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11 | C9orf72, SMCR8
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| The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis.
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| Zhang Y, Burberry A, Wang JY, Sandoe J, Ghosh S, Udeshi ND, Svinkina T, Mordes DA, Mok J, Charlton M, Li QZ, Carr SA, Eggan K.
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| Genes Dev. Jul 1;32(13-14):929-943. doi: 10.1101/gad.313932.118. Epub 2018 Jun 27. 2018
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12 | C9orf72, SMCR8, WDR41
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| C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.
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| Amick J, Ferguson SM.
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| Traffic May;18(5):267-276. doi: 10.1111/tra.12477. Epub 2017 Mar 23. 2017
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13 | C9orf72, SMCR8
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| A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy.
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| Yang M, Liang C, Swaminathan K, Herrlinger S, Lai F, Shiekhattar R, Chen JF.
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| Sci Adv. Sep 2;2(9):e1601167. doi: 10.1126/sciadv.1601167 2016
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14 | FNIP1, FNIP2, NPRL2, NPRL3, SMCR8
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| Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease
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| Zhang D, Iyer LM, He F, Aravind L.
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| Front Genet. Dec 13;3:283. doi: 10.3389/fgene.2012.00283. 2012
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15 | ALKBH5, ATPAF2, C17orf39, COPS3, LLGL1, MED9, MIEF2, RAI1, RASD1, SMCR, SMCR2, SMCR3, SMCR4, SMCR5, SMCR6, SMCR8, SMCR9, SMS, SMS-REPD, SMS-REPM, SMS-REPP, TOM1L2
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| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
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| Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR.
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| Genome Res 12(5):713-28. 2002
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