Modeling Neurodegenerative Disorders in Drosophila melanogaster

H Bolus, K Crocker, G Boekhoff-Falk… - International Journal of …, 2020 - mdpi.com
Drosophila melanogaster provides a powerful genetic model system in which to investigate
the molecular mechanisms underlying neurodegenerative diseases. In this review, we …

Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia

L Renaud, V Picher-Martel, P Codron… - Acta neuropathologica …, 2019 - Springer
Abstract Ubiquilin-2 (UBQLN2) is a member of the ubiquilin family, actively implicated in the
degradation of misfolded and redundant proteins through the ubiquitin-proteasome system …

Ubiquilin 2 modulates ALS/FTD-linked FUS–RNA complex dynamics and stress granule formation

EJ Alexander, A Ghanbari Niaki… - Proceedings of the …, 2018 - National Acad Sciences
The ubiquitin-like protein ubiquilin 2 (UBQLN2) has been genetically and pathologically
linked to the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and …

Promiscuous roles of autophagy and proteasome in neurodegenerative proteinopathies

F Limanaqi, F Biagioni, S Gambardella… - International journal of …, 2020 - mdpi.com
Alterations in autophagy and the ubiquitin proteasome system (UPS) are commonly
implicated in protein aggregation and toxicity which manifest in a number of neurological …

ALS-linked mutations affect UBQLN2 oligomerization and phase separation in a position-and amino acid-dependent manner

TP Dao, B Martyniak, AJ Canning, Y Lei, EG Colicino… - Structure, 2019 - cell.com
Proteasomal shuttle factor UBQLN2 is recruited to stress granules and undergoes liquid-
liquid phase separation (LLPS) into protein-containing droplets. Mutations to UBQLN2 have …

Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly

LM Sharkey, N Safren, AS Pithadia… - Proceedings of the …, 2018 - National Acad Sciences
UBQLN2 is one of a family of proteins implicated in ubiquitin-dependent protein quality
control and integrally tied to human neurodegenerative disease. Whereas wild-type …

UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD

BC Lin, NR Higgins, TH Phung… - The FEBS …, 2022 - Wiley Online Library
Ubiquilin (UBQLN) proteins are a dynamic and versatile family of proteins found in all
eukaryotes that function in the regulation of proteostasis. Besides their canonical function as …

Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery

T Zheng, Y Yang, CA Castañeda - Biochemical Journal, 2020 - portlandpress.com
Cells rely on protein homeostasis to maintain proper biological functions. Dysregulation of
protein homeostasis contributes to the pathogenesis of many neurodegenerative diseases …

Revealing the mutational spectrum in Southern Africans with amyotrophic lateral sclerosis

M Nel, AC Mahungu, N Monnakgotla… - Neurology …, 2022 - AAN Enterprises
Background and Objectives To perform the first screen of 44 amyotrophic lateral sclerosis
(ALS) genes in a cohort of African genetic ancestry individuals with ALS using whole …

Disrupting the balance of protein quality control protein UBQLN2 accelerates tau proteinopathy

JE Gerson, S Sandoval-Pistorius… - Journal of …, 2022 - Soc Neuroscience
Tau protein accumulation drives toxicity in several neurodegenerative disorders. To better
understand the pathways regulating tau homeostasis in disease, we investigated the role of …