| 释义 |
- Clinical significance
- References
- Further reading
{{Underlinked|date=May 2016}}{{Infobox_gene}}Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.[1] Clinical significance Mutations in EXOSC3 cause {{SWL | target=pontocerebellar hypoplasia | label= pontocerebellar hypoplasia | type =genetic_defect_results_in_disease}} and spinal motor neuron degeneration.[2] References 1. ^{{cite web | title = Entrez Gene: EXOSC3 exosome component 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51010| accessdate = }}
2. ^{{cite journal | vauthors = 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 | title = Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration | journal = Nat. Genet. | volume = 44 | issue = 6 | pages = 704–8 | year = 2012 | pmid = 22544365 | pmc = 3366034 | doi = 10.1038/ng.2254 }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Allmang C, Petfalski E, Podtelejnikov A |title=The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases. |journal=Genes Dev. |volume=13 |issue= 16 |pages= 2148–58 |year= 1999 |pmid= 10465791 |doi= 10.1101/gad.13.16.2148| pmc=316947 |display-authors=etal}}
- {{cite journal | vauthors=Lai CH, Chou CY, Ch'ang LY |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. |journal=Genome Res. |volume=10 |issue= 5 |pages= 703–13 |year= 2000 |pmid= 10810093 |doi= 10.1101/gr.10.5.703| pmc=310876 |display-authors=etal}}
- {{cite journal | vauthors=Brouwer R, Allmang C, Raijmakers R |title=Three novel components of the human exosome. |journal=J. Biol. Chem. |volume=276 |issue= 9 |pages= 6177–84 |year= 2001 |pmid= 11110791 |doi= 10.1074/jbc.M007603200 |display-authors=etal}}
- {{cite journal | vauthors=Chen CY, Gherzi R, Ong SE |title=AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. |journal=Cell |volume=107 |issue= 4 |pages= 451–64 |year= 2002 |pmid= 11719186 |doi=10.1016/S0092-8674(01)00578-5 |display-authors=etal}}
- {{cite journal | vauthors=Andersen JS, Lyon CE, Fox AH |title=Directed proteomic analysis of the human nucleolus. |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1–11 |year= 2002 |pmid= 11790298 |doi=10.1016/S0960-9822(01)00650-9 |display-authors=etal}}
- {{cite journal | vauthors=Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ |title=Protein-protein interactions of hCsl4p with other human exosome subunits. |journal=J. Mol. Biol. |volume=315 |issue= 4 |pages= 809–18 |year= 2002 |pmid= 11812149 |doi= 10.1006/jmbi.2001.5265 }}
- {{cite journal | vauthors=Brouwer R, Vree Egberts WT, Hengstman GJ |title=Autoantibodies directed to novel components of the PM/Scl complex, the human exosome. |journal=Arthritis Res. |volume=4 |issue= 2 |pages= 134–8 |year= 2002 |pmid= 11879549 |doi= 10.1186/ar389| pmc=83843 |display-authors=etal}}
- {{cite journal | vauthors=Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ |title=Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. |journal=J. Mol. Biol. |volume=323 |issue= 4 |pages= 653–63 |year= 2002 |pmid= 12419256 |doi=10.1016/S0022-2836(02)00947-6 }}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
- {{cite journal | vauthors=Gherzi R, Lee KY, Briata P |title=A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery. |journal=Mol. Cell |volume=14 |issue= 5 |pages= 571–83 |year= 2004 |pmid= 15175153 |doi= 10.1016/j.molcel.2004.05.002 |display-authors=etal}}
- {{cite journal | vauthors=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 | pmc=442147 }}
- {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
- {{cite journal | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal}}
{{refend}}{{PDB Gallery|geneid=51010}}{{gene-9-stub}} |