Subject Areas on Research
- A conserved family of enzymes that phosphorylate inositol hexakisphosphate.
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
- FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
- Reduced Oxidative Phosphorylation and Increased Glycolysis in Human Glaucoma Lamina Cribrosa Cells.
- Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
- Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
- The genetic landscape of mutations in Burkitt lymphoma.