|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Besides other known mutations in the SNCA gene, the rs3857059 variant has also been linked to various neurodegenerative disorders.
|
27332068 |
2016 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These data indicate that although aggregation of PAP and SNCA causes severe neurodegenerative diseases, PAP -/- with absence of the Snca does not appear to interrupt the cerebellar architecture development and zone and stripe pattern formation.
|
31509576 |
2019 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Insoluble and fibrillar forms of α-synuclein are the major components of Lewy bodies, a hallmark of several sporadic and inherited neurodegenerative diseases known as synucleinopathies.
|
25946078 |
2015 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
SNCA and MAPT genes and environmental factors are important risk factors of Parkinson's disease [PD], the second-most common neurodegenerative disease.
|
22292029 |
2012 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mechanisms involving deregulated processing of proteins such as amyloid beta (Aβ) oligomerization; tau hyperphosphorylation, prion misfolding; α-synuclein accumulation/lewy body formation, chaperone deregulation, acetylcholine depletion, adenosine 2A (A2A) receptor hyperactivation, secretase deregulation, leucine-rich repeat kinase 2 (LRRK2) mutation and mitochondrial proteinopathies have deeper implications in neurodegenerative disorders.
|
31584139 |
2020 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The second-most common neurodegenerative disease, Parkinson's Disease (PD) has three hallmarks: dysfunctional dopamine transmission due, at least in part, to dopamine neuron degeneration; intracellular inclusions of α-synuclein aggregates; and neuroinflammation.
|
29551693 |
2018 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Sncb functions as the physiological antagonist of α-synuclein (Snca), which is involved in the development of neurodegenerative diseases, such as Parkinson's and Alzheimer's diseases.
|
29808713 |
2018 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Aberrant accumulation and self-assembly of α-synuclein are tightly linked to several neurodegenerative diseases called synucleinopathies, including idiopathic Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy.
|
28585223 |
2017 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Protein aggregation is linked with the onset of several neurodegenerative disorders, including Parkinson's disease (PD), which is associated with the aggregation of α-synuclein (αSyn).
|
29417650 |
2018 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In summary, several leads connecting GBA1 mutations with α-synuclein misprocessing have emerged as potential targets for the treatment of GBA1-related synucleinopathies, and possibly, for non-GBA1-associated neurodegenerative diseases.
|
22327140 |
2012 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Parkinson's disease (PD) is an age-dependent neurodegenerative disease that can be caused by genetic mutations in α-synuclein (α-syn) or duplication of wild-type α-syn; PD is characterized by the deposition of α-syn aggregates, indicating a gain of toxicity from accumulation of α-syn.
|
25552648 |
2015 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Finally, we explored the steady-state kinetics of a range of disease α-synuclein variants and found that variants involved in neurodegenerative disease exhibited major changes in their enzymatic activity.
|
28452474 |
2017 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Alpha-synuclein (α-syn) is a synaptic protein that mutations have been linked to Parkinson's disease (PD), a common neurodegenerative disorder that is caused by the degeneration of the dopaminergic neurons in the substantia nigra pars compacta (SNc).
|
22537068 |
2012 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Naturally occurring autoantibodies (NAbs) against a number of potentially disease-associated cellular proteins, including Amyloid-beta1-42 (Abeta1-42), Alpha-synuclein (Asyn), myelin basic protein (MBP), myelin oligodendrocyte glycoprotein (MOG), and S100 calcium binding protein B (S100B) have been suggested to be associated with neurodegenerative disorders, in particular Alzheimer's (AD) and Parkinson's disease (PD).
|
24586351 |
2014 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The adverse effects of aging on neuronal Ca2+ regulation are subject to modification by genetic (mutations in presenilins, alpha-synuclein, huntingtin, or Cu/Zn-superoxide dismutase; apolipoprotein E isotype, etc.) and environmental (dietary energy intake, exercise, exposure to toxins, etc.) factors that may cause or affect the risk of neurodegenerative disease.
|
17328689 |
2007 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Amyloid assemblies of certain proteins, including the Parkinson disease-related protein α-synuclein, are commonly associated with the development and spreading of neurodegenerative diseases, although the nature of the most toxic forms and the mechanisms by which they trigger neurodegeneration remain largely unknown.
|
29886526 |
2018 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Parkinson's disease (PD) is a neurodegenerative disorder characterized by fibrillar cytoplasmic aggregates of α-synuclein (i.e., Lewy bodies) and the associated loss of dopaminergic cells in the substantia nigra.
|
28538683 |
2017 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Altogether, our study indicates that wild-type alpha-synuclein exerts an antiapoptotic effect in neurons that appears to be abolished by the Parkinson's disease-related mutation, thereby suggesting a possible mechanism underlying both sporadic and familial forms of this neurodegenerative disease.
|
10818098 |
2000 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients.
|
16595633 |
2006 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The accumulation of intraneuronal inclusions containing misfolded alpha-synuclein (aSyn) within the central nervous system (CNS) is a common feature found in several neurodegenerative disorders including Parkinson's disease (PD).
|
30771169 |
2019 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Dopaminergic neuronal cell death caused by mutations and accumulation of α-synuclein in Lewy bodies and neurites was suggested as the main strategy for PD, but current studies have paid attention to the role of mevalonate pathway in incidence of neurodegenerative diseases including PD.
|
28419968 |
2017 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Parkinson's disease (PD), a multiorgan neurodegenerative disorder associated with α-synuclein deposits throughout the nervous system and many organs, is clinically characterized by motor and nonmotor features, many of the latter antedating motor dysfunctions by 20 or more years.
|
28802920 |
2017 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In conclusion, (1) a frontal lobe syndrome-like personality change may be one of the characteristic clinical features of early-onset CWP-AD, (2) the deposition pattern of Abeta40 and Abeta42 in CWP-AD is more variable than that of presenilin-1-linked cases, (3) Abeta deposition can result in development of dementia without tau pathology, and (4) CWP-AD with LBs and several other neurodegenerative disorders with LBs share a common process involving alpha-synuclein and NAC deposition.
|
12883830 |
2003 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
LHGDN |
The mice expressing the A53T human alpha-Syn, but not wild-type or the A30P variants, develop adult-onset neurodegenerative disease with a progressive motoric dysfunction leading to death.
|
12084935 |
2002 |
|
Neurodegenerative Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Co-pathology prevalence was similar between the minimal pathology group and most neurodegenerative diseases for each proteinopathy: tau was nearly universal (92-100%), amyloid-β common (20-57%); α-synuclein less common (4-16%); and TDP-43 the rarest (0-16%).
|
29878075 |
2018 |