Ontology highlight
ABSTRACT:
SUBMITTER: Dao TP
PROVIDER: S-EPMC6551275 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Dao Thuy P TP Martyniak Brian B Canning Ashley J AJ Lei Yongna Y Colicino Erica G EG Cosgrove Michael S MS Hehnly Heidi H Castañeda Carlos A CA
Structure (London, England : 1993) 20190411 6
Proteasomal shuttle factor UBQLN2 is recruited to stress granules and undergoes liquid-liquid phase separation (LLPS) into protein-containing droplets. Mutations to UBQLN2 have recently been shown to cause dominant X-linked inheritance of amyotrophic lateral sclerosis (ALS) and ALS/dementia. Interestingly, most of these UBQLN2 mutations reside in its proline-rich (Pxx) region, an important modulator of LLPS. Here, we demonstrated that ALS-linked Pxx mutations differentially affect UBQLN2 LLPS, d ...[more]