|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This variant is in high LD with the TMEM106B non-synonymous variant p.T185S (rs3173615; r<sup>2</sup> = 0.98) which was previously identified as a protective variant for frontotemporal lobar degeneration (FTLD).
|
31456032 |
2020 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
TMEM106B-related and GFRA2-related pathways might be future targets for treatments for FTLD, but the biological interaction between progranulin and these potential disease modifiers requires further study.
|
29724592 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Single nucleotide polymorphisms (SNPs) inherited as one of two common haplotypes at the transmembrane protein 106B (TMEM106B) locus are associated with the risk of multiple neurodegenerative diseases, including frontotemporal lobar degeneration with pathological inclusions of TDP-43.
|
29970152 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, Tmem106b deletion from Grn<sup>-/-</sup> mice normalizes lysosomal protein levels and rescues FTLD-related behavioral abnormalities and retinal degeneration without improving lipofuscin, C1q, and microglial accumulation.
|
28728022 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
To mimic elevated levels of TMEM106B in frontotemporal lobar degeneration (FTLD) cases, we generated transgenic mice expressing TMEM106B under the neuronal specific promoter, CamKII.
|
28126008 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that the up-regulation of TMEM106B may increase the risk of FTLD by directly causing neurotoxicity and a pathological phenotype linked to FTLD-TDP.
|
27563066 |
2016 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Common variants in TMEM106B serve as a distinct risk factor for TDP-43 pathology in older persons without FTLD.
|
25653292 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP).
|
25096617 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Transmembrane protein 106B (TMEM106B) has been identified as a risk factor for frontotemporal lobar degeneration, which is the second most common form of progressive dementia in people under 65 years of age.
|
26651479 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the HpScl groups (HpScl and HpScl-AD) were more likely to exhibit genetic variants in GRN and TMEM106B that are associated with frontotemporal lobar degeneration.
|
24899141 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration.
|
24166182 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
|
25085782 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In line with a potential pathological overlap of FTLD and NCL, Ctsd(-/-) mice, a model for NCL, show elevated levels of the FTLD-associated proteins GRN and TMEM106B.
|
24619111 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration.
|
24731779 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, TMEM106B is a genetic modifier of FTLD with C9orf72 expansions.
|
24442578 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our data add to the growing list of proteins that undergo intramembrane proteolysis and may shed light on the regulation of the frontotemporal lobar degeneration risk factor TMEM106B.
|
24872421 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain.
|
24252750 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration.
|
22511793 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
TMEM106B has recently been identified as a genetic risk factor for frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP).
|
21104415 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We further identified a significant association of TMEM106B SNPs with plasma GRN levels in controls (top SNP rs1990622, corrected p = 0.002) and in peripheral blood samples a highly significant correlation was observed between TMEM106B and GRN mRNA expression in patients with FTLD (r = -0.63, p = 7.7 × 10(-5)) and controls (r = -0.49, p = 2.2 × 10(-10)).
|
21178100 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous carriers of the TMEM106B protective alleles had a 50% reduced risk of developing frontotemporal lobar degeneration.
|
21354975 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rs1990622 (TMEM106B) was identified as a risk factor for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) in a recent genome-wide association.
|
21220649 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
With the TMEM106B gene, a new player has been identified in the pathogenic cascade of FTLD which could hold important implications for the future development of disease-modifying therapies.
|
21614538 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
CTD_human |
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
|
20154673 |
2010 |