Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in sequestosome 1 (<i>SQSTM1</i>) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis.
|
31525130 |
2019 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Notably, mutations in the LIR-motif proteins p62 (SQSTM1) and optineurin (OPTN) contribute to familial forms of frontotemporal dementia and amyotrophic lateral sclerosis.
|
30030024 |
2019 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results identify a novel pathogenic <i>SQSTM1</i> S224X mutation in an atypical FTD patient accompanied with loss of SQSTM1/p62 protein expression probably due to <i>SQSTM1</i> gene haploinsufficiency.
|
29467647 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
An FTD-linked p62 D329G polymorphism and a rare D329H variant could not be proteolyzed by caspase-8, and these noncleavable variants failed to activate mTORC1, thereby revealing the detrimental effect of these mutations.
|
30514811 |
2018 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In this work the role of p62 in energy metabolism was studied in fibroblasts from FTD patients carrying two independent pathogenic mutations in the p62 gene, and in a p62-knock-down (p62 KD) human dopaminergic neuroblastoma cell line (SH-SY5Y).
|
28490746 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the sequestosome 1 (SQSTM1) gene have rarely been found in individuals with FTD.
|
26234378 |
2016 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.
|
27163810 |
2016 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
We performed a systematic review on 42 pathological studies to assess the pooled prevalence rates and density (a measure of the number of inclusions per brain region) of (phosphorylated)-TDP-43, p62 and DRP neuronal inclusions in seven brain regions and the spinal cord of 261 C9ORF72-positive patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and ALS-FTD.
|
26373655 |
2016 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
27545679 |
2016 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although p62/SQSTM1 mutations were initially associated with Paget disease of bone (PDB), they have been also identified in FTD.
|
26839080 |
2016 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A combination of whole-exome sequencing, Sanger sequencing and fragment analysis/Southern blot was performed in order to identify pathogenic mutations and novel variants in these genes as well as other FTD-related genes such as the 'charged multivesicular body protein 2B' (CHMP2B), the 'FUS RNA binding protein' (FUS), the 'TAR DNA binding protein' (TARDBP), the 'sequestosome1' (SQSTM1), and the 'valosin containing protein' (VCP).
|
27632209 |
2016 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations.
|
25114083 |
2015 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Similar to mutations in VCP, dominantly inherited mutations in SQSTM1 are now associated with rimmed vacuolar myopathy, Paget disease of bone, amyotrophic lateral sclerosis, and frontotemporal dementia.
|
26208961 |
2015 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Frequency of SQSTM1 mutations in patients with FTD or FTD-ALS; description of associated phenotypes.
|
24042580 |
2013 |
Frontotemporal dementia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
In parallel, the p62 promoter exhibited elevated oxidative damage in samples from various diseases compared to normal brain, and damage was negatively correlated with p62 expression in FTD samples.
|
19481605 |
2009 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|