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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.9
- 수록면
- 818 - 829 (12page)
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Significant research efforts are ongoing to elucidate the complex molecular mechanisms underlying amyotrophic lateral sclerosis (ALS), which may in turn pinpoint potential therapeutic targets for treatment. The ALS research field has evolved with recent discoveries of numerous genetic mutations in ALS patients, many of which are in genes encoding RNA binding proteins (RBPs), including TDP-43, FUS, ATXN2, TAF15, EWSR1, hnRNPA1, hnRNPA2/B1, MATR3 and TIA1. Accumulating evidence from studies on these ALS-linked RBPs suggests that dysregulation of RNA metabolism, cytoplasmic mislocalization of RBPs, dysfunction in stress granule dynamics of RBPs and increased propensity of mutant RBPs to aggregate may lead to ALS pathogenesis. Here, we review current knowledge of the biological function of these RBPs and the contributions of ALS-linked mutations to disease pathogenesis.
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참고문헌 (178)
참고문헌 신청
Aguilera-Gomez, A. / 2017 / Membrane-bound organelles versus membrane-less compartments and their control of anabolic pathways in Drosophila / Dev. Biol. 428:310~317
Al-Chalabi, A. / 2017 / Gene discovery in amyotrophic lateral sclerosis: implications for clinical management / Nat. Rev. Neurol. 13:96~104
Alarcon, C.R. / 2015 / HNRNPA2B1 is a mediator of m(6)A-dependent nuclear RNA processing events / Cell 162:1299~1308
Anderson, P. / 2009 / RNA granules: posttranscriptional and epigenetic modulators of gene expression / Nat. Rev. Mol. Cell Biol. 10:430~436
Andersson, M.K. / 2008 / The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response / BMC Cell Biol. 9:37
Al-Chalabi, A. / 2017 / Gene discovery in amyotrophic lateral sclerosis: implications for clinical management / Nat. Rev. Neurol. 13:96~104
Alarcon, C.R. / 2015 / HNRNPA2B1 is a mediator of m(6)A-dependent nuclear RNA processing events / Cell 162:1299~1308
Anderson, P. / 2009 / RNA granules: posttranscriptional and epigenetic modulators of gene expression / Nat. Rev. Mol. Cell Biol. 10:430~436
Andersson, M.K. / 2008 / The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response / BMC Cell Biol. 9:37
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