|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Variation contributing to the risk of Parkinson's disease (PD) has been identified in several genes and at several loci including GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT, but the frequencies of risk variants seem to vary according to ethnic background.
|
29029963 |
2017 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.
|
28892059 |
2017 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recent studies have demonstrated that hyperphosphorylation of tau protein plays a role in neuronal toxicities of α-synuclein (ASYN) in neurodegenerative disease such as familial Alzheimer's disease (AD), dementia with Lewy bodies (DLB) and Parkinson's disease.
|
28634349 |
2017 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
In Alzheimer's disease, β-amyloid peptide-containing plaques and intraneuronal neurofibrillary tangles composed of hyperphosphorylated microtubule-associated protein tau are the two main neuropathological lesions, while Parkinson's disease is defined by the presence of Lewy Bodies that are intraneuronal proteinaceous cytoplasmic inclusions.
|
26209472 |
2017 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
A wealth of recent data argues that both β-amyloid (Aβ) and tau proteins form prions that cause Alzheimer's disease, and α-synuclein forms prions that cause multiple system atrophy and Parkinson's disease.
|
28246183 |
2017 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also critically discuss the contribution and relevance of protein aggregation, namely of α-synuclein and tau-proteins, which are known to form aggregates in PD brains harboring <i>LRRK2</i> mutations, to neurodegeneration in LRRK2 rodent models.
|
28202670 |
2017 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found associations between single nucleotide polymorphisms at the GBA and MAPT loci and PD AAO and progression.
|
26601739 |
2016 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Common neurodegenerative proteinopathies, such as Alzheimer's disease (AD) and Parkinson's disease (PD), are characterized by the misfolding and aggregation of toxic protein species, including the amyloid beta (Aß) peptide, microtubule-associated protein Tau (Tau), and alpha-synuclein (αSyn) protein.
|
27338814 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genes involved in cytoskeletal stability and trafficking, such as MAPT and SNCA, are important risk factors for Parkinson's disease (PD).
|
27115672 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings add further data showing that common variants in SNCA and MAPT genes contribute to variability in progression of PD, with SNCA variants associating with motor progression while MAPT variants associated with clinical severity.
|
26776090 |
2016 |
|
Parkinson Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Our data also suggest that increased MAPT expression could be associated with disease state, but not with PD neuropathology severity.
|
27336847 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Methylation of α-synuclein (SNCA) and microtubule-associated protein tau gene appear to be of particular importance and epigenome-wide methylation studies point to several additional candidate genes which may contribute to the individual susceptibility toward PD.
|
27120258 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The H1 haplotype of the microtubule-associated protein tau gene (MAPT) is associated with an increased risk of Parkinson disease (PD) compared with the H2 haplotype, but its effect on Lewy body (LB) formation is unclear.
|
27098667 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date, there is no systematic study that sequences the most common PD causing genes with Mendelian inheritance [α-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2), PARKIN, PTEN-induced putative kinase 1 (PINK1) and DJ-1 (Daisuke-Junko-1)] and susceptibility genes [glucocerebrosidase beta acid (GBA) and microtubule-associated protein tau (MAPT)] identified through genome-wide association studies (GWAS) in a European-American case-control sample (n=815).
|
27094865 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have found an association between the granulin gene rs5848 and microtubule-associated protein tau gene (MAPT) rs242557 polymorphisms and susceptibility to Parkinson's disease (PD).
|
26303052 |
2016 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recently, we have shown that the Parkinson's disease (PD) susceptibility locus MAPT (microtubule associated protein tau) is associated with parkinsonism in older adults without a clinical diagnosis of PD.
|
27458716 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the MAPT H1 haplotype increases the risk of PD, PSP, and non-APOE ɛ4 AD.
|
26444794 |
2016 |
|
Parkinson Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The regional expression of MAPT correlated with the proportionate loss of regional connectivity in Parkinson's disease.
|
27697694 |
2016 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The MAPT H1 haplotype was associated with PD susceptibility.
|
27061069 |
2016 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls.
|
25604855 |
2015 |
|
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
To investigate independent and joint effects of MAPT and SNCA on PD onset age.
|
25960998 |
2015 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found and replicated association of both AD and PD with the A allele of rs393152 within the extended MAPT region on chromosome 17 (meta analysis P-value across five independent AD cohorts=1.65 × 10(-7)).
|
25687773 |
2015 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The common H1 haplotypic variant of the microtubule-associated protein tau gene (MAPT) has been related to an increased risk for Parkinson's disease (PD).
|
25577413 |
2015 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies show that, after α-synuclein, polymorphisms in the tau gene have the second strongest genetic association with PD.
|
25804954 |
2015 |
|
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes.
|
24253235 |
2014 |