Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is an autosomal recessive disorder that causes progressive motor and cognitive impairment in children. The disease arises as a result of inactivating mutations in cytosolic carboxypeptidase 1 (CCP1), leading to excessive polyglutamylation of tubulin in the brain. Researchers at Shimane University have shown in a mouse model that delivering a truncated form of CCP1 into the brain can substantially mitigate Purkinje cell degeneration and improve motor function.

Eukaryotic translation initiation factor 2-α kinase 3 (PERK) plays a role in homeostasis maintenance of the mitochondria-associated membrane (MAM), which in turn has an impact on the mitochondrial energy metabolism and structural morphology. To date, there is still controversy regarding the therapeutic effect of activating PERK for ischemia-reperfusion injury (I/R) management.

Seal Rock Therapeutics Inc. has joined The Michael J. Fox Foundation for Parkinson’s Research (MJFF) LRRK2 Investigative Therapeutics Exchange (LITE) program. The program supports the development of new therapies targeting LRRK2 for the treatment of Parkinson’s disease patients and fosters international collaboration across more than 30 academic and clinical centers and more than a dozen companies.