Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

@inproceedings{Kim2013PrionlikeDM,
  title={Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS},
  author={Hong Joo Kim and Nam Chul Kim and Yong-Dong Wang and Emily A. Scarborough and Jennifer C Moore and Zamia Diaz and Kyle S Maclea and Brian D. Freibaum and Songqing Li and Amandine M Molliex and A. Kanagaraj and Robert A. Carter and Kevin B. Boylan and Aleksandra M. Wojtas and Rosa Rademakers and Jack L. Pinkus and Steven A. Greenberg and John Q. Trojanowski and Bryan J. Traynor and Bradley N. Smith and Simon D Topp and Athina-Soragia Gkazi and Jack W Miller and Christopher E. Shaw and Michael Kottlors and Janbernd Kirschner and Alan Pestronk and Yun Rose Li and Alice Flynn Ford and Aaron D Gitler and Michael Benatar and Oliver D. King and Virginia Kimonis and Eric D. Ross and Conrad Chris Weihl and James Shorter and J. Paul Taylor},
  booktitle={Nature},
  year={2013}
}
Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with neurodegenerative disease, harbour a distinctive prion-like domain (PrLD) enriched in uncharged polar amino acids and glycine. PrLDs in RNA-binding proteins are essential for the assembly of ribonucleoprotein granules. However, the interplay between human PrLD function and disease is not understood. Here we define pathogenic mutations in PrLDs of… CONTINUE READING
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