Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
作者： Amandine Molliex , Anderson P. Kanagaraj , Robert Carter , Kevin B. Boylan , Aleksandra M. Wojtas
DOI: 10.1038/NATURE11922
关键词: RNA-binding protein 、 UBQLN2 、 Stress granule assembly 、 Heterogeneous ribonucleoprotein particle 、 Ribonucleoprotein 、 Biology 、 Stress granule 、 Cell biology 、 Multisystem proteinopathy 、 Cytoplasmic inclusion
摘要: … D262V/D314V) stood out because it was the only variant associated with a conserved residue, it was predicted to be deleterious, and because hnRNPA1 is highly expressed in affected …
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researchgate.net 参考文章(38)
Emanuele Buratti, Antonia Brindisi, Maurizio Giombi, Sergio Tisminetzky, Youhna M. Ayala, Francisco E. Baralle, TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing Journal of Biological Chemistry. ,vol. 280, pp. 37572- 37584 ,(2005) , 10.1074/JBC.M505557200
M. Cushman, B. S. Johnson, O. D. King, A. D. Gitler, J. Shorter, Prion-like disorders: blurring the divide between transmissibility and infectivity Journal of Cell Science. ,vol. 123, pp. 1191- 1201 ,(2010) , 10.1242/JCS.051672
Simon Alberti, Aaron D. Gitler, Susan Lindquist, A suite of Gateway cloning vectors for high-throughput genetic analysis in Saccharomyces cerevisiae. Yeast. ,vol. 24, pp. 913- 919 ,(2007) , 10.1002/YEA.1502
Zhihui Sun, Zamia Diaz, Xiaodong Fang, Michael P Hart, Alessandra Chesi, James Shorter, Aaron D Gitler, Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS PLoS Biology. ,vol. 9, pp. e1000614- ,(2011) , 10.1371/JOURNAL.PBIO.1000614
Manuela Neumann, Markus Tolnay, Ian R.A. Mackenzie, The molecular basis of frontotemporal dementia. Expert Reviews in Molecular Medicine. ,vol. 11, ,(2009) , 10.1017/S1462399409001136
E. D. Ross, H. K. Edskes, M. J. Terry, R. B. Wickner, Primary sequence independence for prion formation Proceedings of the National Academy of Sciences of the United States of America. ,vol. 102, pp. 12825- 12830 ,(2005) , 10.1073/PNAS.0506136102
Simon Alberti, Randal Halfmann, Oliver King, Atul Kapila, Susan Lindquist, A Systematic Survey Identifies Prions and Illuminates Sequence Features of Prionogenic Proteins Cell. ,vol. 137, pp. 146- 158 ,(2009) , 10.1016/J.CELL.2009.02.044
Masato Kato, Tina W. Han, Shanhai Xie, Kevin Shi, Xinlin Du, Leeju C. Wu, Hamid Mirzaei, Elizabeth J. Goldsmith, Jamie Longgood, Jimin Pei, Nick V. Grishin, Douglas E. Frantz, Jay W. Schneider, She Chen, Lin Li, Michael R. Sawaya, David Eisenberg, Robert Tycko, Steven L. McKnight, Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels Cell. ,vol. 149, pp. 753- 767 ,(2012) , 10.1016/J.CELL.2012.04.017
P. K. Teng, D. Eisenberg, Short protein segments can drive a non-fibrillizing protein into the amyloid state. Protein Engineering Design & Selection. ,vol. 22, pp. 531- 536 ,(2009) , 10.1093/PROTEIN/GZP037