Results 161 to 170 of about 15,713 (203)
SNCA Is a Functionally Low-Expressed Gene in Lung Adenocarcinoma [PDF]
Genes, 2018 There is increasing evidence for the contribution of synuclein alpha (SNCA) to the etiology of neurological disorders, such as Parkinson’s disease (PD).
Yuanliang Yan +2 more
exaly +4 more sources
A Novel SNCA A30G Mutation Causes Familial Parkinsonʼs Disease
Movement Disorders, 2021 Background The SNCA gene encoding α‐synuclein (αSyn) is the first gene identified to cause autosomal‐dominant Parkinsonʼs disease (PD). Objective We report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and ...
Christos Koros +2 more
exaly +3 more sources
The effect of SNCA 3′ region on the levels of SNCA-112 splicing variant [PDF]
Neurogenetics, 2010 Genetic variability at the 3' region of SNCA locus has been repeatedly associated with susceptibility to sporadic Parkinson's disease (PD). Accumulated evidence emphasizes the importance of SNCA dosage and expression levels in PD pathogenesis. However, the mechanism through which the 3' region of SNCA gene modulates the risk to develop sporadic PD ...
Ornit Chiba-Falek +2 more
exaly +3 more sources
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Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background
Neurobiology of Aging, 2005Alpha-Synuclein is a major component of Lewy bodies, neuronal inclusions diagnostic for Parkinson's disease (PD). While an Ala53Thr mutation in alpha-synuclein can cause PD in humans, in mice the wildtype residue at position 53 is threonine, indicating that mice are either too short-lived to develop PD, or are protected by the six other amino acid ...
Deborah E, Cabin +5 more
openaire +2 more sources
SNCA REP1 and Parkinson’s disease
Neuroscience Letters, 2018REP1 is a polymorphic dinucleotide repeat sequence located in the promoter region of the SNCA gene (OMIM 163890). Opinions regarding the interaction between the various REP1 alleles and Parkinson's disease (PD) or its phenotypes have been inconsistent and have thus far not been comprehensively analyzed.
Li Shu +5 more
openaire +2 more sources
Hypomethylation of SNCA in blood of patients with sporadic Parkinson's disease
Journal of the Neurological Sciences, 2014SNCA is a pathogenic gene identified in rare familial PD, and over-expression of SNCA was suggested in the pathogenesis of familial and sporadic PD. Rep1 polymorphism of SNCA was associated with susceptibility to sporadic PD and SNCA expression in intro and in vivo.
Shen Lu, Qian Xu, Jifeng Guo
exaly +3 more sources
Up-regulation of SNCA gene expression: implications to synucleinopathies [PDF]
Neurogenetics, 2016 Synucleinopathies are a group of neurodegenerative diseases that share a common pathological lesion of intracellular protein inclusions largely composed by aggregates of alpha-synuclein protein. Accumulating evidence, including genome wide association studies, has implicated alpha-synuclein (SNCA) gene in the etiology of synucleinopathies. However, the
Ornit Chiba-Falek
exaly +3 more sources
Genetic variability in SNCA and Parkinson’s disease
neurogenetics, 2011Over the last decades, increasing knowledge about the genetic architecture of Parkinson's disease has provided novel insights into the pathogenesis of the disorder, generating hypotheses for further research. Characterizing the role of SNCA, encoding the α-synuclein protein, has been a particularly important aspect of this development.
Lasse, Pihlstrøm, Mathias, Toft
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The link between the SNCA gene and parkinsonism
Neurobiology of Aging, 2015The groundbreaking discovery of mutations in the SNCA gene in a rare familial form of Parkinson's disease (PD) has revolutionized our basic understanding of the etiology of PD and other related disorders. Genome-wide Association Studies has demonstrated a wide array of single-nucleotide polymorphisms associated with the increasing risk of developing ...
Wei, Xu, Lan, Tan, Jin-Tai, Yu
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A53T in a parkinsonian family: a clinical update of the SNCA phenotypes
Journal of Neural Transmission, 2016Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other
TAMBASCO, Nicola +5 more
openaire +3 more sources