SNCA c.208G>A ;(p.V70M)

Variant ID: 4-90743495-C-T

NM_000345.3(SNCA):c.208G>A;(p.V70M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


From cradle to grave: neurogenesis, neuroregeneration and neurodegeneration in Alzheimer's and Parkinson's diseases.

Neural Regeneration Research
Wakhloo, Debia D; Oberhauser, Jane J; Madira, Angela A; Mahajani, Sameehan S
Publication Date: 2022-12

Variant appearance in text: SNCA: V70M
PubMed Link: 35662189
Variant Present in the following documents:
  • Main text
  • NRR-17-2606.pdf
View BVdb publication page



Structural and Functional Insights into α-Synuclein Fibril Polymorphism.

Biomolecules
Mehra, Surabhi S; Gadhe, Laxmikant L; Bera, Riya R; Sawner, Ajay Singh AS; Maji, Samir K SK
Publication Date: 2021-09-28

Variant appearance in text: NACP: V70M
PubMed Link: 34680054
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01419.pdf
View BVdb publication page



Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.

Human Molecular Genetics
Kim, Tae-Eun TE; Newman, Andrew J AJ; Imberdis, Thibaut T; Brontesi, Lisa L; Tripathi, Arati A; Ramalingam, Nagendran N; Fanning, Saranna S; Selkoe, Dennis D; Dettmer, Ulf U
Publication Date: 2021-11-16

Variant appearance in text: NACP: V70M
PubMed Link: 34254125
Variant Present in the following documents:
  • ddab188.pdf
View BVdb publication page



Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies.

Genes
Gámez-Valero, Ana A; Beyer, Katrin K
Publication Date: 2018-01-25

Variant appearance in text: SNCA: V70M
PubMed Link: 29370097
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unveiling a Selective Mechanism for the Inhibition of α-Synuclein Aggregation by β-Synuclein.

International Journal Of Molecular Sciences
Leitao, Andre A; Bhumkar, Akshay A; Hunter, Dominic J B DJB; Gambin, Yann Y; Sierecki, Emma E
Publication Date: 2018-01-24

Variant appearance in text: SNCA: V70M
PubMed Link: 29364143
Variant Present in the following documents:
  • Main text
  • ijms-19-00334.pdf
View BVdb publication page



Molecular Genetics of Neurodegenerative Dementias.

Cold Spring Harbor Perspectives In Biology
Hinz, Flora I FI; Geschwind, Daniel H DH
Publication Date: 2017-04-03

Variant appearance in text: SNCA: V70M
PubMed Link: 27940516
Variant Present in the following documents:
  • Main text
View BVdb publication page



UPDATE ON DEMENTIA WITH LEWY BODIES.

Current Translational Geriatrics And Experimental Gerontology Reports
Karantzoulis, Stella S; Galvin, James E JE
Publication Date: 2013-09-01

Variant appearance in text: SNCA: V70M
PubMed Link: 25379359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Can we clinically diagnose dementia with Lewy bodies yet?

Translational Neurodegeneration
Huang, Yue Y; Halliday, Glenda G
Publication Date: 2013-02-11

Variant appearance in text: SNCA: V70M
PubMed Link: 23398715
Variant Present in the following documents:
  • Main text
  • 2047-9158-2-4.pdf
View BVdb publication page



Molecular pathology of Lewy body diseases.

International Journal Of Molecular Sciences
Beyer, Katrin K; Domingo-Sàbat, Montserrat M; Ariza, Aurelio A
Publication Date: 2009-03

Variant appearance in text: SNCA: V70M
PubMed Link: 19399218
Variant Present in the following documents:
  • Main text
  • ijms-10-00724.pdf
View BVdb publication page