English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

An expansion of the hexanucleotide  GGGGCC  repeat in the first intron of  C9ORF72  gene was recently linked to amyotrophic lateral sclerosis. It is not known if the mutation results in a gain of function, a loss of function or if, perhaps both mechanisms are linked to pathogenesis. We generated a genetic model of ALS to explore the biological consequences of a null mutation of the  Caenorhabditis elegans C9ORF72  orthologue,  F18A1.6 , also called  alfa-1 .  alfa-1  mutants displayed age-dependent motility defects leading to paralysis and the specific degeneration of GABAergic motor neurons.  alfa-1  mutants showed differential susceptibility to environmental stress where osmotic stress provoked neurodegeneration. Finally, we observed that the motor defects caused by loss of  alfa-1  were additive with the toxicity caused by mutant TDP-43 proteins, but not by the mutant FUS proteins. These data suggest that a loss of  alfa-1/C9ORF72  expression may contribute to motor neuron degeneration in a pathway associated with other known ALS genes.

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans