|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Microtubule-associated protein Tau (MAPT) and GGGGCC (G<sub>4</sub>C<sub>2</sub>) repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) are the major known genetic causes of frontotemporal dementia (FTD) and other neurodegenerative diseases, such as Amyotrophic Lateral Sclerosis (ALS).
|
31176718 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Abbreviations: AAV: adeno-associated virus; AD: Alzheimer disease; ALP: autophagy-lysosomal pathway; ALS: amyotrophic lateral sclerosis; CALCOCO2/NDP52: calcium binding and coiled-coil domain 2; FTD: frontotemporal dementias; HD: Huntington disease; HTT: huntingtin; LIR: LC3-interacting region; NBR1: autophagy cargo receptor; NFE2L2/Nrf2: nuclear factor, erythroid derived 2, like 2; NFTs: neurofibrillary tangles; MAPT: microtubule associated protein tau; OPTN: optineurin; p-MAPT: hyperphosphorylated MAPT; PFA: paraformaldehyde; TARDBP/TDP-43: TAR DNA binding protein; TAX1BP1 Tax1: binding protein 1; ThioS: thioflavin-S; UBA: ubiquitin-associated.
|
30290707 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
In this study, we aimed to evaluate the diagnostic accuracy for ALS of cerebrospinal fluid (CSF) neurofilament (Nf), Tau protein, and inflammatory factors such as interleukin (IL)-2, IL-6, IL-10, IL-15, and granulocyte-macrophage colony-stimulating factor (GMCSF) in Chinese patients.
|
30210445 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
While the neuropathology underlying these disorders is most consistent with a widespread alteration in the metabolism of transactive response DNA-binding protein 43 (TDP-43), in both ALS with cognitive impairment (ALSci) and ALS with FTD (ALS-FTD; also known as MND-FTD) there is evidence for alterations in the metabolism of the microtubule associated protein tau.
|
29731706 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The present case further broadens the clinical phenotype associated with MAPT mutations and suggests that, although rarely, MAPT mutations can cause ALS and, therefore, should be analyzed in ALS patients, especially in those with early breathing difficulties and long-lasting disease.
|
30893702 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study found novel genetic overlap between ALS and diseases of the FTD spectrum, that the MAPT H1 haplotype confers risk for ALS, and identified the mitophagy-associated, proapoptotic protein BNIP1 as an ALS risk gene.
|
29630712 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Combined analysis of TDP-43, τT, and τP-181 in CSF may be useful for the antemortem diagnosis of ALS and FTD.
|
28848086 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Microtubule-associated protein tau (MAPT) gene is compelling among the susceptibility genes of neurodegenerative diseases which include Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
|
28402959 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Interestingly, BAG3-mediated selective macroautophagy is also involved in the clearance of aggregated proteins associated with age-related neurodegenerative disorders, like Alzheimer's disease (tau-protein), Huntington's disease (mutated huntingtin/polyQ proteins), and amyotrophic lateral sclerosis (mutated SOD1).
|
28680391 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To conduct a meta-analysis that investigates sex differences in the prevalence of mutations in the 3 most common genes that cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)-chromosome 9 open reading frame 72 (<i>C9orf72</i>), progranulin (<i>GRN</i>), or microtubule-associated protein tau (<i>MAPT</i>)-in patients clinically diagnosed with these conditions.
|
28916533 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Pathological developments leading to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are associated with misbehavior of several key proteins, such as SOD1 (superoxide dismutase 1), TARDBP/TDP-43, FUS, C9orf72, and dipeptide repeat proteins generated as a result of the translation of the intronic hexanucleotide expansions in the C9orf72 gene, PFN1 (profilin 1), GLE1 (GLE1, RNA export mediator), PURA (purine rich element binding protein A), FLCN (folliculin), RBM45 (RNA binding motif protein 45), SS18L1/CREST, HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1), HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1), ATXN2 (ataxin 2), MAPT (microtubule associated protein tau), and TIA1 (TIA1 cytotoxic granule associated RNA binding protein).
|
28980860 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
We have previously shown that amyotrophic lateral sclerosis with cognitive impairment can be characterized by pathologic inclusions of microtubule-associated protein tau (tau) phosphorylated at Thr(175) (pThr(175)) in association with GSK3β activation.
|
25573097 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Routine exons mutation of SOD1 was not detected, but one single nucleotide polymorphism of A to G at 138278 at 3' UTR of the Tau gene was shown to significantly over-express in fALS familial members.
|
22853691 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The MAPT genotype of the H1/H2 polymorphism did not influence ALS susceptibility (odds ratio = 1.08 [95% confidence interval 0.99-1.18], p = 0.08) and did not affect the clinical phenotype.
|
20498436 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
LHGDN |
Enduring involvement of tau, beta-amyloid, alpha-synuclein, ubiquitin and TDP-43 pathology in the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam (ALS/PDC).
|
18843496 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To determine if variation in the gene that encodes microtubule-associated protein tau gene (MAPT) contributes to risk for these disorders, we genotyped nine single nucleotide polymorphism (SNP) sites and one insertion/deletion in the 5' end of MAPT in 54 ALS-G, 135 PDC-G, 153 GD and 258 control subjects, all of whom are Chamorros.
|
17185385 |
2007 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We investigated the susceptibility of the dinucleotide polymorphism A0 in the tau gene to amyotrophic lateral sclerosis (ALS).
|
16005901 |
2005 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
The authors compared tau protein deposition in the frontal cortex of patients with cognitive impairment of amyotrophic lateral sclerosis (ALSci) (n = 6), cognitively intact patients with ALS (n = 6), and age-matched controls (n = 6) in order to determine the pathologic substrate of ALSci.
|
14694044 |
2003 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Because neurofibrillary tangles containing tau protein are present in ALS-G-PDC-G, and because mutations in the tau gene (TAU) cause autosomal dominant frontotemporal dementia, TAU was examined as a candidate gene for ALS-G-PDC-G.
|
11708997 |
2001 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Filamentous tau aggregates are hallmarks of tauopathies, e.g., frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC).
|
10595524 |
1999 |
|
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|