TY - JOUR
T1 - Ubiquilin 2
T2 - A component of the ubiquitin-proteasome system with an emerging role in neurodegeneration
AU - Zhang, Katharine Y.
AU - Yang, Shu
AU - Warraich, Sadaf T.
AU - Blair, Ian P.
PY - 2014/5
Y1 - 2014/5
N2 - Ubiquilin 2, which is encoded by the UBQLN2 gene, plays a critical role in protein clearance pathways including the ubiquitin-proteasome system and autophagy. Ubiquilin 2 physically associates with ubiquitin ligases and proteasomes to mediate protein degradation. It also plays a role in the regulation of cell signalling and cell cycle progression, and association with cytoskeletal elements. Recent studies have revealed that ubiquilin 2 also plays a pathogenic role in neurodegenerative disease, including amyotrophic lateral sclerosis (ALS), and ALS-frontotemporal dementia (ALS-FTD). Rare UBQLN2 mutations cause a small subset of ALS and ALS-FTD cases. More widespread is the presence of ubiquilin 2 positive inclusions in the affected neurons of some familial and sporadic ALS and ALS-FTD patients. These discoveries have led to the hypothesis that perturbation in protein clearance, mediated by ubiquilin 2, is an important pathogenic mechanism in neurodegeneration.
AB - Ubiquilin 2, which is encoded by the UBQLN2 gene, plays a critical role in protein clearance pathways including the ubiquitin-proteasome system and autophagy. Ubiquilin 2 physically associates with ubiquitin ligases and proteasomes to mediate protein degradation. It also plays a role in the regulation of cell signalling and cell cycle progression, and association with cytoskeletal elements. Recent studies have revealed that ubiquilin 2 also plays a pathogenic role in neurodegenerative disease, including amyotrophic lateral sclerosis (ALS), and ALS-frontotemporal dementia (ALS-FTD). Rare UBQLN2 mutations cause a small subset of ALS and ALS-FTD cases. More widespread is the presence of ubiquilin 2 positive inclusions in the affected neurons of some familial and sporadic ALS and ALS-FTD patients. These discoveries have led to the hypothesis that perturbation in protein clearance, mediated by ubiquilin 2, is an important pathogenic mechanism in neurodegeneration.
KW - Amyotrophic lateral sclerosis
KW - Autophagy
KW - Dementia
KW - Ubiquilin 2
KW - Ubiquitin-proteasome system
UR - http://www.scopus.com/inward/record.url?scp=84897863195&partnerID=8YFLogxK
U2 - 10.1016/j.biocel.2014.02.018
DO - 10.1016/j.biocel.2014.02.018
M3 - Article
C2 - 24589709
AN - SCOPUS:84897863195
VL - 50
SP - 123
EP - 126
JO - International Journal of Biochemistry and Cell Biology
JF - International Journal of Biochemistry and Cell Biology
SN - 1357-2725
ER -