Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4
The ALS4 team, Christopher Grunseich, MD, and Vivian G. Cheung, MD, with the National Institutes of Health recently published the...
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in
SETX ALS4 mice thus recapitulated ALS disease phenotypes in association with TDP-43 mislocalization and provided insight into the basis...
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Pro
Dr. Grunseich and colleagues found that patients’ cells with a senataxin mutation have fewer R-loops. They showed that having fewer...
Beyond DNA: March 2016
Sequence variation in the RNA Dr. Cheung and her colleagues study RNA. Traditionally one thinks that DNA contains information for...
Discovery Medicine: February 2015
Unwinding the Role of Senataxin in Neurodegeneration. Published: Discovery Medicine; ISSN: 1539-6509; Discov Med 19(103):127-136,...
Genes and Development: April 2014
A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to...
NIH Research: March 2014
RNA-DNA differences are generated in human cells within seconds after RNA exits polymerase II. Published: Cell Reports 2014 Mar 13;...
PLOS: November 2013
Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and...
Genes & Development: October 2013
A SUMO-dependent interaction between Senataxin and the exosome ... targets the exosome to sites of transcription-induced DNA damage....
Identification of the ALS4 Gene Mutation: June 2004
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4). Published: American Journal of Human Genetics...