Asset Details
Do you wish to reserve the book?
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
Do you wish to request the book?
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
2013
Overview
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.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
/ Amyotrophic lateral sclerosis
/ Animals
/ Caenorhabditis elegans - genetics
/ Caenorhabditis elegans - metabolism
/ Caenorhabditis elegans Proteins
/ Defects
/ GABA
/ GABAergic Neurons - metabolism
/ GABAergic Neurons - pathology
/ Motor Neuron Disease - genetics
/ Motor Neuron Disease - metabolism
/ Motor Neuron Disease - pathology
/ Mutants
/ Mutation
/ Neurons
/ Proteins
/ Stresses
/ Toxicity
/ Worms
