One model of this disease is the R-six-slash-two mouse, which was used to demonstrate that SIRT1 has a protective effect against it.
One model of this disease is the R-six-slash-two mouse, which was used to demonstrate that SIRT1 has a protective effect against it. Mutations in junctophilin-3 cause a disease similar to this. The protein central to this disease is responsible for cargo-loading autophagocytic vesicles and interacts with various HAP and HIP proteins. The protein central to this disease is SUMO-ylated by the Rhes protein, leading to death of GABA-ergic cells in the striatum. This disease is caused by the expansion of CAG-repeats in the N-terminus of a namesake gene, resulting in that gene having a longer poly-glutamine track than normal. This disease demonstrates genetic anticipation, is autosomal dominant, and commonly results in death 20 years after onset. This disease is characterized by jerky movements called chorea. For 10 points, name this genetic neuro-degenerative disease.
One model of this disease is the R-six-slash-two mouse, which was used to demonstrate that SIRT1 has a protective effect against it.
 Huntington's Disease