Frontotemporal dementia
|
0.200 |
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 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia.
|
31319884 |
2019 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding ubiquilin-2 (UBQLN2) are linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
30377984 |
2019 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
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 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In a search for UBQLN2-interacting proteins, we found an enrichment of stress granule (SG) components, including ALS/FTD-linked heterogeneous ribonucleoprotein fused in sarcoma (FUS).
|
30442662 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in a proline-rich-repeat region (PRR) of UBQLN2 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD); however, neither the normal functions of the PRR nor impacts of ALS-associated mutations within it are well understood.
|
29161404 |
2018 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal dementia (FTD).
|
28125704 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD).
|
28716533 |
2017 |
Frontotemporal dementia
|
0.200 |
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 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To investigate this further, we have sequenced the ALS gene UBQLN2 in our FTD cohort and have found a single putative mutation.
|
25179229 |
2015 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical sequencing of UBQLN2 in a family with X-linked FTD/ALS with suspected incomplete penetrance, manifesting in both genders, revealed a P506S mutation in.
|
23944734 |
2013 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We analysed the UBQLN2 gene in 819 SALS cases, 226 FALS cases, 53 ALS-FTD patients, and 63 patients with a clinical record of FTD.
|
23138764 |
2013 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia.
|
22246868 |
2012 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As part of an established exome sequencing program to identify disease genes in familial ALS, we identified a novel missense UBQLN2 mutation (c.1460C>T, p.T487I) in 2 apparently unrelated multigenerational ALS families with no evidence of frontotemporal dementia.
|
22717235 |
2012 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
UBQLN2 is able to cause any disease on the ALS-FTD continuum, including pure FTD.
|
22892309 |
2012 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genes linked to rare cases of familial ALS and/or FTD, like FUS, TARDBP, OPTN, and UBQLN2 may converge onto a unifying pathogenic pathway and thereby provide novel therapeutic targets common to a spectrum of etiologically diverse forms of ALS and ALS-FTD.
|
21901496 |
2011 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|