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Items: 3

1.
Lou Gehrig’s Disease (ALS): UBQLN2 Mutations Strike Out of Phase
Nicole Higgins, Brian Lin, Mervyn J. Monteiro
Structure. Author manuscript; available in PMC 2020 Jun 4.
Published in final edited form as: Structure. 2019 Jun 4; 27(6): 879–881. doi: 10.1016/j.str.2019.05.006
PMCID:
PMC7267892
AbstractArticlePDF–192K
2.
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
Rossella Spataro, Maria Kousi, Sali M. K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella, Nicholas Katsanis
Hum Genomics. 2019; 13: 19. Published online 2019 Apr 16. doi: 10.1186/s40246-019-0203-9
PMCID:
PMC6469102
AbstractArticlePDF–1.8M
3.
A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage
Patricia Richard, Shuang Feng, James L. Manley
Genes Dev. 2013 Oct 15; 27(20): 2227–2232. doi: 10.1101/gad.224923.113
PMCID:
PMC3814643
AbstractArticlePDF–2.3M

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