Results 21 to 30 of about 12,300 (184)

Rationale for Therapeutic Silencing of Alpha-Synuclein in Parkinson’s Disease [PDF]

Journal of Movement Disorders, 2011
The purpose of this paper is to provide the rationale for therapeutic silencing of the alpha-synuclein gene (SNCA) in Parkinson’s disease (PD). The paper reviews the public health significance of PD; the causal links between rare SNCA variants and ...
Demetrius M. Maraganore
doaj   +1 more source

Generation of two human induced pluripotent stem cell lines (iPSCs) with mutations of the α-synuclein (SNCA) gene associated with Parkinson’s disease; the A53T mutation (LCSBi003) and a triplication of the SNCA gene (LCSBi007)

Stem Cell Research, 2021
Mutations in the SNCA (α-synuclein, PARK1) gene significantly contribute to Parkinson’s disease and SNCA inclusions are strongly associated with PD. Fibroblasts from a 51-year-old female patient with disease onset at 39 years, carrying the A53T SNCA ...
Gabriela Novak, Steven Finkbeiner, Gaia Skibinski, Alexander Skupin   +3 more
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Isogenic human SNCA gene dosage induced pluripotent stem cells to model Parkinson’s disease

Stem Cell Research, 2022
Alpha-synuclein overexpression and aggregation are critical factors in the pathogenesis of Parkinson’s disease (PD). Clinical cases with alpha-synuclein (SNCA) multiplications or deletions indicate that gene expression levels are essential for ...
Faria Zafar, Vasavi Nallur Srinivasaraghavan, Max Yang Chen, C. Alejandra Morato Torres, Birgitt Schüle   +4 more
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Autosomal dominant Parkinson's disease caused by SNCA duplications [PDF]

Parkinsonism & Related Disorders, 2016
The discovery in 1997 that mutations in the SNCA gene cause Parkinson's disease (PD) greatly advanced our understanding of this illness. There are pathogenic missense mutations and multiplication mutations in SNCA. Thus, not only a mutant protein, but also an increased dose of wild-type protein can produce autosomal dominant parkinsonism. We review the
Takuya, Konno, Owen A, Ross, Andreas, Puschmann, Dennis W, Dickson, Zbigniew K, Wszolek   +4 more
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Parkinson Hastalığı ve İlişkili Olduğu Genler

Düzce Üniversitesi Bilim ve Teknoloji Dergisi, 2018
ParkinsonHastalığı, Alzheimer hastalığından sonra ikinci en sık görülen nörodejeneratifbir hastalıktır. Parkinsonhastalığının temel patolojik bulguları; orta beyindeki substantia nigra parscompacta ve striatumdaki dopaminerjik nöronların ilerleyici kaybı
Yener Kurman
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Activators of alpha synuclein expression identified by reporter cell line-based high throughput drug screen

Scientific Reports, 2021
Multiplications, mutations and dysregulation of the alpha synuclein gene (SNCA) are associated with the demise of dopaminergic neurons and are considered to play important roles in the pathogenesis of familial and sporadic forms of Parkinson’s disease ...
Fabian Stahl, Philip Denner, Dominik Piston, Bernd O. Evert, Laura de Boni, Ina Schmitt, Peter Breuer, Ullrich Wüllner   +7 more
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Prospective of SNCA in nervous system diseases [PDF]

Ibrain, 2017
Synuclein alpha (SNCA), a protein isolated from the Pacific Electric sturgeon, is well‐known for its distribution in the nuclei of neurons and could charge the organ choline. Immunohistochemical staining showed that synuclein were distributed in the synaptic terminal, also expressed in the postsynaptic membrane and synaptic cleft, involving in the ...
Chao Jia, Wei Liu
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Cell-Type Specific Changes in DNA Methylation of SNCA Intron 1 in Synucleinopathy Brains

Frontiers in Neuroscience, 2021
Parkinson’s disease (PD) and dementia with Lewy body (DLB) are the most common synucleinopathies. SNCA gene is a major genetic risk factor for these diseases group, and dysregulation of its expression has been implicated in the genetic etiologies of ...
Jeffrey Gu, Jeffrey Gu, Julio Barrera, Julio Barrera, Young Yun, Young Yun, Susan K. Murphy, Thomas G. Beach, Randy L. Woltjer, Geidy E. Serrano, Boris Kantor, Boris Kantor, Ornit Chiba-Falek, Ornit Chiba-Falek   +13 more
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SNCA Gene Methylation in Parkinson’s Disease and Multiple System Atrophy

Epigenomes, 2023
In recent years, epigenetic mechanisms have been implicated in the development of multifactorial diseases including neurodegenerative disorders. In Parkinson’s disease (PD), as a synucleinopathy, most studies focused on DNA methylation of SNCA gene coding alpha-synuclein but obtained results were rather contradictory.
Fedotova, Ekaterina Yu., Iakovenko, Elena V., Abramycheva, Natalia Yu., Illarioshkin, Sergey N.   +3 more
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Tyrosine kinase inhibition facilitates autophagic SNCA/α-synuclein clearance [PDF]

Autophagy, 2013
The effects of ABL1/ABL inhibition on clearance of SNCA/α-synuclein were evaluated in animal models of α-synucleinopathies. Parkinson disease (PD) is a movement disorder characterized by death of dopaminergic substantia nigra (SN) neurons and brain accumulation of SNCA. The tyrosine kinase ABL1 is activated in several neurodegenerative diseases.
Michaeline L, Hebron, Irina, Lonskaya, Charbel E-H, Moussa   +2 more
openaire   +2 more sources