| 1 | EXOSC3, EXOSC8, PCH1B, PCH1C |
| The RNA exosome and RNA exosome-linked disease. | |
| Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB. | |
| RNA 24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1. 2018 | |
| 2 | EXOSC3 |
| Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae. | |
| Gillespie A, Gabunilas J, Jen JC, Chanfreau GF. | |
| RNA 23(4):466-472. doi: 10.1261/rna.060004.116. Epub 2017 Jan 4. 2017 | |
| 3 | EXOSC3, EXOSC8, PCH1B, PCH1C, RBM7 |
| Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. | |
| Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R. | |
| Hum Mol Genet 25(14):2985-2996. Epub 2016 May 18. 2016 | |
| 4 | EXOSC3, PCH1 |
| EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. | |
| Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. | |
| Orphanet J Rare Dis 9:23. doi: 10.1186/1750-1172-9-23. 2014 | |
| 5 | EXOSC3, SPG86 |
| Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia. | |
| Halevy A, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A. | |
| J Neurol 261(11):2165-9. doi: 10.1007/s00415-014-7457-x. Epub 2014 Aug 23. 2014 | |
| 6 | EXOSC3, PCH1 |
| EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. | |
| Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. | |
| J Neurol 260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. 2013 | |
| 7 | EXOSC3, PCH1 |
| Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. | |
| Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. | |
| Neurology 80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. 2013 | |
| 8 | EXOSC3, PCH1 |
| Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. | |
| Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC. | |
| Nat Genet 44(6):704-8. doi: 10.1038/ng.2254. 2012 | |
| 9 | EXOSC1, EXOSC2, EXOSC3, EXOSC4, EXOSC5, EXOSC6, EXOSC7, EXOSC8, EXOSC9, EXOSC10, PNPT1 |
| Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. | |
| Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ. | |
| J Mol Biol 323(4):653-63. 2002 | |
| 10 | EXOSC3, EXOSC4, EXOSC5 |
| Three novel components of the human exosome. | |
| Brouwer R, Allmang C, Raijmakers R, van Aarssen Y, Egberts WV, PetfalskiE, van Venrooij WJ, Tollervey D, Pruijn GJ. | |
| J Biol Chem 276(9):6177-84. Epub 2000 Nov 10. 2001 | |
| 11 | EXOSC2, EXOSC3, EXOSC4, EXOSC1, EXOSC5, EXOSC6, EXOSC7, EXOSC9, EXOSC10 |
| AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. | |
| Chen CY, Gherzi R, Ong SE, Chan EL, Raijmakers R, Pruijn GJ, Stoecklin G, Moroni C, Mann M, Karin M. | |
| Cell 107(4):451-64. 2001 | |
| 12 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3 |
| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. | |
| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W. | |
| Genome Res 10(5):703-13. 2000 | |