Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical parkinsonism

Muhammad Aslam, Anwar Ullah, Nagarajan Paramasivam, Nirosiya Kandasamy, Saima Naureen, Mazhar Badshah, Kafaitullah Khan, Muhammad Wajid, Rashda Abbasi, Roland Eils, Marc Brockmann, Matthias Schlesner, Nafees Ahmad & Jakob Von Engelhardt
Atypical parkinsonian disorders (APDs) comprise a group of neurodegenerative diseases with heterogeneous clinical and pathological features. Most APDs are sporadic, but rare familial forms have also been reported. Epidemiological and post-mortem studies associated APDs with oxidative stress and cellular protein aggregates. Identifying molecular mechanisms that translate stress into toxic protein aggregation and neurodegeneration in APDs is an active area of research. Recently, ribonucleic acid (RNA) stress granule (SG) pathways were discussed to be pathogenically relevant...
This data repository is not currently reporting usage information. For information on how your repository can submit usage information, please see our documentation.