|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One of the multitasking proteins, transactive response DNA-binding protein 43 (tdp43) plays a key role in RNA regulation and the two pathogenic mutations such as D169G and K263E, located at the RNA Recognition Motif (RRM) of tdp43, are reported to cause neurological disorders such as Amyotrophic Lateral Sclerosis and FrontoTemporal Lobar Degeneration.
|
28330421 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The stereotypical distribution of TAR DNA-binding 43 protein (TDP-43) aggregates in frontotemporal lobar degeneration (FTLD-TDP) suggests that pathological TDP-43 spreads throughout the brain via cell-to-cell transmission and correlates with disease progression, but no in vivo experimental data support this hypothesis.
|
30310141 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
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 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Autopsy data revealed Alzheimer disease pathology as the most common pathologic diagnosis in lvPPA (76%), frontotemporal lobar degeneration-TDP-43 in svPPA (80%), and frontotemporal lobar degeneration-TDP-43/tau in nfvPPA (64%).
|
30255971 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Possible concurrence of TDP-43, tau and other proteins in amyotrophic lateral sclerosis/frontotemporal lobar degeneration.
|
28960544 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.
|
27997711 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Differential Neurotoxicity Related to Tetracycline Transactivator and TDP-43 Expression in Conditional TDP-43 Mouse Model of Frontotemporal Lobar Degeneration.
|
29807909 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration are neurodegenerative diseases characterized by accumulation of insoluble aggregates of phosphorylated 43 kDa TAR DNA-binding protein (TDP-43) and linked with abnormal expansion of a hexanucleotide repeat in an intron of chromosome 9 open reading frame 72 (C9ORF72).
|
29750243 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
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 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
ALS: amyotrophic lateral sclerosis; ATG4B: autophagy related 4B cysteine peptidase; AUC: area under the curve; FTLD: frontotemporal lobar degeneration; iPSC: induced pluripotent stem cells; ROC: receiver operating characteristic; TARDBP: TAR DNA binding protein; RT-qPCR: quantitative RT-PCR.
|
29912613 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All seven participants with available brain autopsies (6 GRN+/A152T+, 1 GRN+/A152T-) showed frontotemporal lobar degeneration with TDP-43 inclusions (type A classification), which is characteristic of GRN carriers.
|
28594853 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration.
|
28666471 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several TDP-43 mutations associated with amyotrophic lateral sclerosis or frontotemporal lobar degeneration with ubiquitin inclusions promoted tau exon 10 inclusion more effectively than wild-type TDP-43 but did not affect TDP-43 cytoplasmic aggregation in cultured cells.
|
28487370 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis.
|
29078806 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transactive response DNA-binding protein 43 kDa (TDP-43) is considered a major pathological protein in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
28324764 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration.
|
28877758 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
TAR DNA-binding protein 43 (TDP-43) is a main constituent of cytoplasmic aggregates in neuronal and glial cells in cases of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
28599005 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cytoplasmic TDP-43 mislocalization and aggregation is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
27920024 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The underlying pathological spectrum (termed FTLD, frontotemporal lobar degeneration) is in most cases defined by accumulation of either tau (FTLD-tau) or TDP-43 proteins (FTLD-TDP).
|
27662293 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dominant missense mutations in TAR DNA-binding protein 43 (TDP-43) cause amyotrophic lateral sclerosis (ALS), and the cytoplasmic accumulation of TDP-43 represents a pathological hallmark in ALS and frontotemporal lobar degeneration (FTD).
|
28129109 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Intracellular aggregation of TDP-43 is a hallmark of amyotrophic lateral sclerosis and ubiquitin-positive frontotemporal lobar degeneration.
|
28167528 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Evidence suggests that cytoplasmic mislocalization of nuclear proteins such as transactive response DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) may be associated with neurotoxicity in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration.
|
28453527 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The RNA-binding and -processing protein TAR DNA-binding protein 43 (TDP-43) is heavily linked to the underlying causes and pathology of neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
28510586 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease.
|
28859337 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pathologic Involvement of Glutamatergic Striatal Inputs From the Cortices in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis.
|
28859339 |
2017 |