SNCA c.374A>T ;(p.Y125F)

Variant ID: 4-90650361-T-A

NM_000345.3(SNCA):c.374A>T;(p.Y125F)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Tyrosine 136 phosphorylation of α-synuclein aggregates in the Lewy body dementia brain: involvement of serine 129 phosphorylation by casein kinase 2.

Acta Neuropathologica Communications
Sano, Kazunori K; Iwasaki, Yasushi Y; Yamashita, Yuta Y; Irie, Keiichi K; Hosokawa, Masato M; Satoh, Katsuya K; Mishima, Kenichi K
Publication Date: 2021-11-12

Variant appearance in text: SNCA: Y125F
PubMed Link: 34772466
Variant Present in the following documents:
  • 40478_2021_Article_1281.pdf
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α-Synuclein Trafficking in Parkinson's Disease: Insights From Fly and Mouse Models.

Asn Neuro
Cheng, Jingjing J; Lu, Qingqing Q; Song, Li L; Ho, Margaret S MS
Publication Date: 2018

Variant appearance in text: SNCA: Y125F
PubMed Link: 30482039
Variant Present in the following documents:
  • Main text
  • 10.1177_1759091418812587.pdf
View BVdb publication page



α-Synuclein stimulation of monoamine oxidase-B and legumain protease mediates the pathology of Parkinson's disease.

The Embo Journal
Kang, Seong Su SS; Ahn, Eun Hee EH; Zhang, Zhentao Z; Liu, Xia X; Manfredsson, Fredric P FP; Sandoval, Ivette M IM; Dhakal, Susov S; Iuvone, P Michael PM; Cao, Xuebing X; Ye, Keqiang K
Publication Date: 2018-06-15

Variant appearance in text: SNCA: Y125F
PubMed Link: 29769405
Variant Present in the following documents:
  • Main text
View BVdb publication page



TrkB neurotrophic activities are blocked by α-synuclein, triggering dopaminergic cell death in Parkinson's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kang, Seong Su SS; Zhang, Zhentao Z; Liu, Xia X; Manfredsson, Fredric P FP; Benskey, Matthew J MJ; Cao, Xuebing X; Xu, Jun J; Sun, Yi E YE; Ye, Keqiang K
Publication Date: 2017-10-03

Variant appearance in text: SNCA: Y125F
PubMed Link: 28923922
Variant Present in the following documents:
  • Main text
View BVdb publication page



Asparagine endopeptidase cleaves α-synuclein and mediates pathologic activities in Parkinson's disease.

Nature Structural & Molecular Biology
Zhang, Zhentao Z; Kang, Seong Su SS; Liu, Xia X; Ahn, Eun Hee EH; Zhang, Zhaohui Z; He, Li L; Iuvone, P Michael PM; Duong, Duc M DM; Seyfried, Nicholas T NT; Benskey, Matthew J MJ; Manfredsson, Fredric P FP; Jin, Lingjing L; Sun, Yi E YE; Wang, Jian-Zhi JZ; Ye, Keqiang K
Publication Date: 2017-08

Variant appearance in text: SNCA: Y125F
PubMed Link: 28671665
Variant Present in the following documents:
  • Main text
View BVdb publication page



α-synuclein-lanthanide metal ions interaction: binding sites, conformation and fibrillation.

Bmc Biophysics
Bai, Jia J; Zhang, Zeting Z; Liu, Maili M; Li, Conggang C
Publication Date: 2015

Variant appearance in text: NACP: Y125F
PubMed Link: 26843956
Variant Present in the following documents:
  • 13628_2016_Article_26.pdf
View BVdb publication page



Systematic comparison of the effects of alpha-synuclein mutations on its oligomerization and aggregation.

Plos Genetics
Lázaro, Diana F DF; Rodrigues, Eva F EF; Langohr, Ramona R; Shahpasandzadeh, Hedieh H; Ribeiro, Thales T; Guerreiro, Patrícia P; Gerhardt, Ellen E; Kröhnert, Katharina K; Klucken, Jochen J; Pereira, Marcos D MD; Popova, Blagovesta B; Kruse, Niels N; Mollenhauer, Brit B; Rizzoli, Silvio O SO; Braus, Gerhard H GH; Danzer, Karin M KM; Outeiro, Tiago F TF
Publication Date: 2014-11

Variant appearance in text: SNCA: Y125F
PubMed Link: 25393002
Variant Present in the following documents:
  • Main text
  • pgen.1004741.pdf
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c-Abl phosphorylates α-synuclein and regulates its degradation: implication for α-synuclein clearance and contribution to the pathogenesis of Parkinson's disease.

Human Molecular Genetics
Mahul-Mellier, Anne-Laure AL; Fauvet, Bruno B; Gysbers, Amanda A; Dikiy, Igor I; Oueslati, Abid A; Georgeon, Sandrine S; Lamontanara, Allan J AJ; Bisquertt, Alejandro A; Eliezer, David D; Masliah, Eliezer E; Halliday, Glenda G; Hantschel, Oliver O; Lashuel, Hilal A HA
Publication Date: 2014-06-01

Variant appearance in text: SNCA: Y125F
PubMed Link: 24412932
Variant Present in the following documents:
  • Main text
View BVdb publication page