Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS-Reference-Cited by-同舟云学术

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Published:2013-03 Issue:7442 Volume:495 Page:467-473
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Kim Hong Joo,Kim Nam Chul,Wang Yong-Dong,Scarborough Emily A.,Moore Jennifer,Diaz Zamia,MacLea Kyle S.,Freibaum Brian,Li Songqing,Molliex Amandine,Kanagaraj Anderson P.,Carter Robert,Boylan Kevin B.,Wojtas Aleksandra M.,Rademakers Rosa,Pinkus Jack L.,Greenberg Steven A.,Trojanowski John Q.,Traynor Bryan J.,Smith Bradley N.,Topp Simon,Gkazi Athina-Soragia,Miller Jack,Shaw Christopher E.,Kottlors Michael,Kirschner Janbernd,Pestronk Alan,Li Yun R.,Ford Alice Flynn,Gitler Aaron D.,Benatar Michael,King Oliver D.,Kimonis Virginia E.,Ross Eric D.,Weihl Conrad C.,Shorter James,Taylor J. Paul

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/nature11922.pdf

Reference38 articles.

1. Nalbandian, A. et al. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget’s disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J. Mol. Neurosci. 45, 522–531 (2011)

2. Johnson, J. O. et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68, 857–864 (2010)

3. Watts, G. D. et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genet. 36, 377–381 (2004)

4. Neumann, M., Tolnay, M. & Mackenzie, I. R. The molecular basis of frontotemporal dementia. Expert Rev. Mol. Med. 11, e23 (2009)

5. Shi, Z. et al. Characterization of the Asian myopathy patients with VCP mutations. Eur. J. Neurol. 19, 501–509 (2012)

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