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

ABSTRACT: 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 in several neurodegenerative disorders including APDs. Using whole genome sequencing, mRNA expression analysis, transfection assays and cell imaging, we investigated the genetic and molecular basis of a familial neurodege

SUBMITTER: Aslam M 

PROVIDER: S-EPMC6753086 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature