A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis.
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ABSTRACT:
SUBMITTER: Edens BM
PROVIDER: S-EPMC5451210 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Publications
A novel ALS-associated variant in <i>UBQLN4</i> regulates motor axon morphogenesis.
Edens Brittany M BM Yan Jianhua J Miller Nimrod N Deng Han-Xiang HX Siddique Teepu T Ma Yongchao C YC
eLife 20170502
The etiological underpinnings of amyotrophic lateral sclerosis (ALS) are complex and incompletely understood, although contributions to pathogenesis by regulators of proteolytic pathways have become increasingly apparent. Here, we present a novel variant in <i>UBQLN4</i> that is associated with ALS and show that its expression compromises motor axon morphogenesis in mouse motor neurons and in zebrafish. We further demonstrate that the ALS-associated <i>UBQLN4</i> variant impairs proteasomal func ...[more]
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