|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, the highlighted article also investigated the autophagy phenotype of a common amyotrophic lateral sclerosis (ALS)-associated mutation in the gene encoding UBQLN2, demonstrating the contribution of abnormal v-ATPase-MTOR-mediated autophagy in ALS pathogenesis.
|
31516068 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition, those pathological neurofilament accumulations are known in α-synuclein in Parkinson's disease (PD), Aβ and tau in Alzheimer's disease (AD), polyglutamine in CAG trinucleotide repeat disorders, superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP43), neuronal FUS proteins, optineurin (OPTN), ubiquilin 2 (UBQLN2), and dipeptide repeat protein (DRP) in amyotrophic lateral sclerosis (ALS).
|
31820696 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We postulate that the changes in physical properties caused by ALS-linked Pxx mutations modify UBQLN2 behavior in vivo, possibly contributing to aberrant stress granule morphology and dynamics, leading to formation of inclusions, pathological characteristics of ALS.
|
30982635 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
To analyze interaction between UBQLN2 and TDP-43 and to produce a relevant ALS animal model, we have generated a new transgenic mouse expressing UBQLN2<sup>P497H</sup> under the neurofilament heavy (NFH) gene promoter.
|
30377984 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
UBQLN2 received much attention after the discovery of gene mutations in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD).
|
31319884 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lou Gehrig's Disease (ALS): UBQLN2 Mutations Strike Out of Phase.
|
31167121 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
|
30348461 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hence, this study highlights perturbations in secretory protein trafficking and ER homeostasis as pathogenic mechanisms associated with ALS/FTD-associated forms of UBQLN2.
|
31802140 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We propose that ALS-associated mutations in UBQLN2 disrupt folding and that both aggregated species and soluble oligomers instigate neuron autonomous toxicity through interference with Ub homeostasis.
|
29161404 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ALS-linked mutations in UBQLN2 reduced its association with FUS and impaired its function in regulating FUS-RNA complex dynamics and SG formation.
|
30442662 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in UBQLN2 have been linked to X-linked dominant amyotrophic lateral sclerosis with frontotemporal dementia (ALS-FTD).
|
29936333 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Ubiquilin 2 (UBQLN2) is an amyotrophic lateral sclerosis-linked molecular chaperone with a prion-like domain that directly engages ubiquitin to triage clients for proteasomal degradation.Dao et al.
|
29547719 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the UBQLN2 gene have been implicated in amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal lobar dementia (ALS/FTLD).
|
29247619 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in ubiquilin2 (UBQLN2) have been linked to abnormal protein aggregation in amyotrophic lateral sclerosis (ALS).
|
30409191 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our data suggest that mutations in the UBQLN2 gene are rare in Chinese sALS patients.
|
28125704 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first study of ALS genetics in New Zealand, adding New Zealand to the growing list of countries in which C9ORF72 repeat expansion and UBQLN2 mutations are detected in ALS cases.
|
27480424 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results confirm the role of PXX repeat in ALS pathogenesis, show that UBQLN2-linked disease can manifest like a SP phenotype, evidence a highly reduced disease penetrance in females carrying UBQLN2 mutations, which is important information for genetic counseling, and underline the pivotal role of ubiquilin-2 in proteolysis regulation pathways.
|
28716533 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutation of ubiquilin 2 (UBQLN2) causes neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
27456931 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this study, we sequenced SOD1, FUS and TARDBP in a central-southern Chinese cohort of 173 patients with ALS (15 familial ALS and 158 sporadic ALS) to detect mutations.
|
27604643 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in Ubiquilin-2 are linked to the onset of amyotrophic lateral sclerosis, but its connection to disease processes has remained unknown.Hjerpe et. al now report that Ubiquilin-2 enables the ubiquitin proteasome system (UPS) to single-handedly clear aggregated proteins, a cellular function previously thought to rely at least partially on autophagy.
|
27518558 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast, all five ALS mutations in ubiquilin-2 that we examined had reduced binding with WT hnRNPA1.
|
25616961 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
We inhibited UPS function and induced oxidative stress in the fibroblasts and found that ALS-related cellular changes, such as aggregate formation and ubiquitination of ALS-associated proteins (TDP-43 and ubiquilin 2), can be reproduced in these cells.
|
26013250 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
UBQLN2 was found to be a potent regulator of the levels of the FTD-linked secretory factor progranulin, possibly via the endosomal system, and ALS-linked mutations disturbed these functional consequences.
|
25398946 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population.
|
25681989 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We found that overexpression of ubiquilin-2 proteins containing any one of five different ALS mutations slow degradation of Myc, a prototypic proteasome substrate.
|
26075709 |
2015 |