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rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we review the role and relevance of the BDNF Val66Met polymorphism in neurodegenerative diseases, with particular emphasis on glaucoma, multiple sclerosis (MS), Alzheimer's disease (AD) and Parkinson's disease (PD).
|
29896439 |
2018 |
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rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we review the role and relevance of the BDNF Val66Met polymorphism in neurodegenerative diseases, with particular emphasis on glaucoma, multiple sclerosis (MS), Alzheimer's disease (AD) and Parkinson's disease (PD).
|
29896439 |
2018 |
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rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The common human Val66Met polymorphism of BDNF has been implicated in the pathophysiology of neuropsychiatric and neurodegenerative disorders, and in the outcome of pro-adaptive and therapeutic treatments.
|
30067287 |
2018 |
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rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Understanding the role of brain-derived neurotrophic factor (BDNF) in synaptic plasticity and synaptogenesis, the impact of the BDNF Val66Met polymorphism in Alzheimer's disease-relevant endophenotypes - including episodic memory and hippocampal volume - and the technological progress in measuring synaptic changes in humans all pave the way for a 'synaptic repair' therapy for neurodegenerative diseases that targets pathophysiology rather than pathogenesis.
|
23674053 |
2013 |
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rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Understanding the role of brain-derived neurotrophic factor (BDNF) in synaptic plasticity and synaptogenesis, the impact of the BDNF Val66Met polymorphism in Alzheimer's disease-relevant endophenotypes - including episodic memory and hippocampal volume - and the technological progress in measuring synaptic changes in humans all pave the way for a 'synaptic repair' therapy for neurodegenerative diseases that targets pathophysiology rather than pathogenesis.
|
23674053 |
2013 |
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rs143624519
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|
|
0.030 |
GeneticVariation |
BEFREE |
These data support a role for phosphorylation of the variant threonine in A152T tau toxicity and suggest a mechanism involving impaired retrograde axonal transport contributing to human neurodegenerative disease.
|
30590647 |
2019 |
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rs28933979
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In the present study we aimed to study TTR V30M aggregates effect in autophagy, a cellular mechanism crucial for cell survival that has been implicated in the development of several neurodegenerative diseases.
|
27382986 |
2016 |
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rs28933979
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.
|
26286643 |
2016 |
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rs143624519
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We describe clinical features of 9 patients with neurodegenerative disease (4 women) harboring p.A152T, aged 51 to 79 years at symptom onset.
|
23518664 |
2014 |
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rs143624519
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These data provide both the first genetic evidence and functional studies supporting the role of MAPT p.A152T as a rare risk factor for both FTD-s and AD and the concept that rare variants can increase the risk for relatively common, complex neurodegenerative diseases, but since no clear significance threshold for rare genetic variation has been established, some caution is warranted until the findings are further replicated.
|
22556362 |
2012 |
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rs28933979
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect.
|
16630162 |
2006 |
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rs63751438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, using cell-based assays and tau transgenic mice harboring an acetylation-mimic mutation at residue Lys-280 (K280Q), we evaluated whether this substitution modifies the neurodegenerative disease pathology associated with the aggregate-prone tau P301S variant.
|
31543505 |
2019 |
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rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The functional polymorphism of MTHFR gene, C677T has been shown to impact various diseases and implicated as a risk factor for the development of various neurodegenerative disorders including glaucoma.
|
27585654 |
2016 |
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rs387907043
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease.
|
25905915 |
2015 |
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rs104893768
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The majority of mutations in rhodopsin, including the common P23H substitution, lead to protein misfolding, which is a feature in many neurodegenerative disorders.
|
24853414 |
2014 |
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rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Parkinson disease is a progressive neurodegenerative disease for which leucine-rich repeat kinase 2 (LRRK2 carriers) p.G2019S confers substantial genotypic and population attributable risk.
|
24355527 |
2014 |
|
rs63751438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The activation of Nrf2/ARE genes is neuroprotective in other transgenic mouse models of neurodegenerative diseases and it appears to be an important mediator of the neuroprotective effects of MB in P301S mice.
|
24556215 |
2014 |
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rs387907043
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we demonstrate that L115R and ΔL116 mutant proteins are mistargeted in neuroendocrine cells and form SDS-resistant aggregates, concordant with the properties of other mutant proteins linked to neurodegenerative disorders.
|
22902780 |
2012 |
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rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly protective against Alzheimer's disease while H63D-HFE is a risk factor for neurodegenerative diseases.
|
21243428 |
2011 |
|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The C282Y mutation is more frequently associated with Hemochromatosis and the frequency of the H63D mutation is receiving increasing attention in neurodegenerative disorders.
|
17119292 |
2006 |
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date.
|
16250030 |
2006 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Previous reports have shown that the C677T polymorphism of methylenetetrahydrofolate reductase gene has been associated with neurodegenerative disorders.
|
15390052 |
2004 |
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rs104893877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].
|
12719631 |
2003 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].
|
12719631 |
2003 |
|
rs104893768
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We show that expression of P23H, but not wild-type rhodopsin, results in a generalized impairment of the ubiquitin proteasome system, suggesting a mechanism for photoreceptor degeneration that links RP to a broad class of neurodegenerative diseases.
|
12091393 |
2002 |