Amyotrophic Lateral Sclerosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
To study the potential role of ubiquilin-2 in ALS, we used recombinant adeno-associated viral (rAAV) vectors to express UBQLN2 and three of the identified ALS-linked mutants (P497H, P497S, and P506T) in primary neuroglial cultures and in developing neonatal mouse brains.
|
26152284 |
2015 |
Amyotrophic Lateral Sclerosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here, we show that ALS/dementia-linked UBQLN2(P497H) transgenic mice develop neuronal pathology with ubiquilin2/ubiquitin/p62-positive inclusions in the brain, especially in the hippocampus, recapitulating several key pathological features of dementia observed in human patients with UBQLN2 mutations.
|
25246588 |
2014 |
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1.
|
25616961 |
2015 |
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.
|
22892309 |
2012 |
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
|
21857683 |
2011 |
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.
|
22560112 |
2012 |
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.
|
22717235 |
2012 |
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation.
|
24215460 |
2014 |
Amyotrophic Lateral Sclerosis, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%).
|
30348461 |
2019 |
Cognition Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Overexpression of Ubqln2 with a pathogenic mutation (P497H substitution) caused cognitive deficits and neuronal loss in transgenic rats at the age of 130 days.
|
25388785 |
2015 |
Dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show that ALS/dementia-linked UBQLN2(P497H) transgenic mice develop neuronal pathology with ubiquilin2/ubiquitin/p62-positive inclusions in the brain, especially in the hippocampus, recapitulating several key pathological features of dementia observed in human patients with UBQLN2 mutations.
|
25246588 |
2014 |
Frontotemporal dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%).
|
30348461 |
2019 |
Frontotemporal dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells.
|
31802140 |
2019 |
Impaired cognition
|
|
0.010 |
GeneticVariation
|
BEFREE |
Overexpression of Ubqln2 with a pathogenic mutation (P497H substitution) caused cognitive deficits and neuronal loss in transgenic rats at the age of 130 days.
|
25388785 |
2015 |
Pick Disease of the Brain
|
|
0.010 |
GeneticVariation
|
BEFREE |
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%).
|
30348461 |
2019 |
Presenile dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show that ALS/dementia-linked UBQLN2(P497H) transgenic mice develop neuronal pathology with ubiquilin2/ubiquitin/p62-positive inclusions in the brain, especially in the hippocampus, recapitulating several key pathological features of dementia observed in human patients with UBQLN2 mutations.
|
25246588 |
2014 |