NSF c.1933A>G ;(p.T645A)

Variant ID: 17-44827163-A-G

NM_006178.3(NSF):c.1933A>G;(p.T645A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate.

Molecular Neurodegeneration
Belluzzi, Elisa E; Gonnelli, Adriano A; Cirnaru, Maria-Daniela MD; Marte, Antonella A; Plotegher, Nicoletta N; Russo, Isabella I; Civiero, Laura L; Cogo, Susanna S; Carrion, Maria Perèz MP; Franchin, Cinzia C; Arrigoni, Giorgio G; Beltramini, Mariano M; Bubacco, Luigi L; Onofri, Franco F; Piccoli, Giovanni G; Greggio, Elisa E
Publication Date: 2016-01-13

Variant appearance in text: NSF: T645A
PubMed Link: 26758690
Variant Present in the following documents:
  • Main text
  • 13024_2015_Article_66.pdf
View BVdb publication page



Functional architecture of olfactory ionotropic glutamate receptors.

Neuron
Abuin, Liliane L; Bargeton, Benoîte B; Ulbrich, Maximilian H MH; Isacoff, Ehud Y EY; Kellenberger, Stephan S; Benton, Richard R
Publication Date: 2011-01-13

Variant appearance in text: NSF: T645A
PubMed Link: 21220098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulated RalBP1 binding to RalA and PSD-95 controls AMPA receptor endocytosis and LTD.

Plos Biology
Han, Kihoon K; Kim, Myoung-Hwan MH; Seeburg, Daniel D; Seo, Jinsoo J; Verpelli, Chiara C; Han, Seungnam S; Chung, Hye Sun HS; Ko, Jaewon J; Lee, Hyun Woo HW; Kim, Karam K; Heo, Won Do WD; Meyer, Tobias T; Kim, Hyun H; Sala, Carlo C; Choi, Se-Young SY; Sheng, Morgan M; Kim, Eunjoon E
Publication Date: 2009-09

Variant appearance in text: NSF: T645A
PubMed Link: 19823667
Variant Present in the following documents:
  • pbio.1000187.pdf
View BVdb publication page