|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Progranulin gene (GRN) mutations cause frontotemporal lobar degeneration (FTLD) with TDP43-positive inclusions, although its clinical phenotype is heterogeneous and includes patients classified as behavioral variant-FTLD (bvFTLD), progressive non-fluent aphasia (PNFA), corticobasal syndrome, Alzheimer's disease (AD), or Parkinson's disease (PD).
|
22647257 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the DNA/RNA binding proteins TDP-43 and FUS are associated with Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration.
|
22363618 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration.
|
31213972 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
We assessed the prevalence and distribution of GVD in cases with TDP-43-related frontotemporal lobar degeneration (FTLD-TDP) and amyotrophic lateral sclerosis (ALS-TDP).
|
31144027 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here we immunoprecipitated endogenous p62 in the cerebral cortex from patients with frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) and found that p62 coimmunoprecipitated several proteins, including TDP-43, which is a major disease protein in FTLD-TDP.
|
22674379 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to compare clinical features and perfusion patterns on SPECT of patients with familial FTLD-TAR DNA binding protein 43 kDa (TDP) and MAPT mutations.
|
21753175 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
The formation of TDP-43 aggregates is one of the major distinguishing features of TDP-43 proteinopathies, especially in patients affected by Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar degeneration (FTLD).
|
22406069 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Accumulating evidence suggests that pathogenic TAR DNA-binding protein (TDP)-43 fragments contain a partial RNA-recognition motif domain 2 (RRM2) in amyotrophic lateral sclerosis (ALS)/frontotemporal lobar degeneration.
|
23300771 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Detergent-resistant, ubiquitinated and hyperphosphorylated Tar DNA binding protein 43 (TDP-43, encoded by TARDBP) neuronal cytoplasmic inclusions are the pathological hallmark in ∼95% of amyotrophic lateral sclerosis and ∼60% of frontotemporal lobar degeneration cases.
|
26936937 |
2016 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
To further elucidate how TTBK1/2 activity contributes to both TDP-43 and tau phosphorylation in the context of the neurodegeneration seen in FTLD, we examined the consequences of elevated human TTBK1/2 kinase expression in transgenic animal models of disease.
|
29409526 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
We examined regional distribution patterns of phosphorylated 43-kDa TAR DNA-binding protein (pTDP-43) intraneuronal inclusions in frontotemporal lobar degeneration (FTLD).
|
24407427 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
FTD usually belongs to the frontotemporal lobar degeneration (FTLD) disease group, and its familial forms are dominantly inherited and linked to a group of genes relevant to frontal and temporal brain pathology, such as MAPT, GRN, C9ORF72, TARDBP, CHMP2B, VCP, and FUS.
|
29578490 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Pathological alteration of TDP-43 (TAR DNA-binding protein-43), a protein involved in various RNA-mediated processes, is a hallmark feature of the neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
24497641 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most common inherited form of Frontotemporal Lobar Degeneration (FTLD) known stems from Progranulin (GRN) mutation and exhibits TDP-43 plus ubiquitin aggregates.
|
21092856 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Also, sequencing in 190 additional AD patients of TARDBP exon 6 in which pathogenic mutations have been reported in FTLD and ALS was negative.
|
20555136 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study not only supports the scenario that loss-of-function of TDP-43 in mice may recapitulate key behaviour features of the FTLD diseases, but also provides a list of TDP-43 target genes/transcript isoforms useful for future therapeutic research.
|
30922385 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recently, however, the DNA- and RNA-binding protein TDP-43 has been identified as the major protein present in the hallmark inclusion bodies of frontotemporal lobar degeneration with ubiquitinated inclusions (FTLD-U), suggesting a role for transcriptional dysregulation in FTLD-U pathophysiology.
|
18223198 |
2008 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
TAR DNA-binding protein 43 (TDP-43) is a key player in neurodegenerative diseases including frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).
|
29802307 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Given the critical role for TDP-43 in diverse neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP), there has been a recent surge in efforts to understand the normal functions of TDP-43 and the molecular basis of dysregulation that occurs in TDP-43 proteinopathies.
|
21783422 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
To model the hippocampal neurodegeneration and memory-related behavioral impairment that occurs in FTLD and other tau and TDP-43 proteinopathy diseases, we used an adeno-associated virus serotype 9 (AAV9) vector to induce bilateral expression of either microtubule-associated protein tau or transactive response DNA binding protein 43 kDa (TDP-43) in adult rat dorsal hippocampus.
|
22177996 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.
|
23053136 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
In PPA patients with a non-AD profile (presumably FTLD), two different clusters could be identified according to the τP - 181/τT ratio, possibly corresponding to the two major FTLD pathologies (tau and TDP-43).
|
27858708 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MND/ALS-associated SOD1, FUS and TARDBP gene mutations were excluded; however, further investigations revealed that all four of the cases did show a repeat expansion of C9orf72, the recently reported cause of chromosome 9-linked MND/ALS and FTLD.
|
22181065 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Akin to frontotemporal lobar degeneration with TDP-43 inclusions, in some individuals with CTE, the TDP-43 proteinopathy extends to involve the spinal cord and is associated with motor neuron disease.
|
20720505 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
(4) Conclusions: ALS-TDP-43 and FTLD-U share molecular and functional alterations, although part of the proteostatic impairment is region- and disease-specific.
|
30577465 |
2018 |