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Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.
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Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
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Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
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Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.
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RNP Assembly Defects in Spinal Muscular Atrophy.
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Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
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SMN-mediated assembly of RNPs: a complex story.
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Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
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Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.
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Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes.
Neuron. 2024 Dec 18;112(24):4033-4047.e8. doi: 10.1016/j.neuron.2024.10.007. Epub 2024 Oct 31.
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DDX6 modulates P-body and stress granule assembly, composition, and docking.
J Cell Biol. 2024 Jun 3;223(6). doi: 10.1083/jcb.202306022. Epub 2024 Mar 27.
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RNA-Binding Proteins: A Role in Neurotoxicity?
Neurotox Res. 2023 Dec;41(6):681-697. doi: 10.1007/s12640-023-00669-w. Epub 2023 Sep 30.
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Proteins rather than mRNAs regulate nucleation and persistence of Oskar germ granules in Drosophila.
Cell Rep. 2023 Jul 25;42(7):112723. doi: 10.1016/j.celrep.2023.112723. Epub 2023 Jun 28.
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The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration.
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The long noncoding RNA scaffolds neuronal granules to maintain nervous system maturity.
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Hsp70 exhibits a liquid-liquid phase separation ability and chaperones condensed FUS against amyloid aggregation.
iScience. 2022 May 5;25(6):104356. doi: 10.1016/j.isci.2022.104356. eCollection 2022 Jun 17.
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Chromatin-contact atlas reveals disorder-mediated protein interactions and moonlighting chromatin-associated RBPs.
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RNA Modifications and RNA Metabolism in Neurological Disease Pathogenesis.
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本文引用的文献

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C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.
Nat Neurosci. 2016 May;19(5):668-677. doi: 10.1038/nn.4272. Epub 2016 Mar 21.
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C9orf72 is required for proper macrophage and microglial function in mice.
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Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects.
Nat Struct Mol Biol. 2016 Apr;23(4):286-92. doi: 10.1038/nsmb.3184. Epub 2016 Mar 7.
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Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.
Hum Mol Genet. 2016 Mar 1;25(5):936-50. doi: 10.1093/hmg/ddv627. Epub 2016 Jan 6.
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Phase separation in biology; functional organization of a higher order.
Cell Commun Signal. 2016 Jan 5;14:1. doi: 10.1186/s12964-015-0125-7.
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DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions.
Nature. 2015 Dec 24;528(7583):517-22. doi: 10.1038/nature16193. Epub 2015 Dec 16.
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A Polyadenylation-Dependent 3' End Maturation Pathway Is Required for the Synthesis of the Human Telomerase RNA.
Cell Rep. 2015 Dec 15;13(10):2244-57. doi: 10.1016/j.celrep.2015.11.003. Epub 2015 Nov 25.
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Human Telomerase RNA Processing and Quality Control.
Cell Rep. 2015 Dec 15;13(10):2232-43. doi: 10.1016/j.celrep.2015.10.075. Epub 2015 Nov 25.
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Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.
Nat Genet. 2015 Dec;47(12):1482-8. doi: 10.1038/ng.3423. Epub 2015 Oct 19.
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Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
Hum Mol Genet. 2015 Dec 1;24(23):6588-602. doi: 10.1093/hmg/ddv363. Epub 2015 Sep 11.

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