PC c.2326T>G ;(p.S776A)

Variant ID: 11-66618292-A-C

NM_001040716.1(PC):c.2326T>G;(p.S776A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Therapeutic Strategies for Spinocerebellar Ataxia Type 1.

Biomolecules
Kerkhof, Laurie M C LMC; van de Warrenburg, Bart P C BPC; van Roon-Mom, Willeke M C WMC; Buijsen, Ronald A M RAM
Publication Date: 2023-05-02

Variant appearance in text: PC: S776A
PubMed Link: 37238658
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00788.pdf
View BVdb publication page



Moving Towards Therapy in SCA1: Insights from Molecular Mechanisms, Identification of Novel Targets, and Planning for Human Trials.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Srinivasan, Sharan R SR; Shakkottai, Vikram G VG
Publication Date: 2019-10

Variant appearance in text: PC: S776A
PubMed Link: 31338702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model.

Neurobiology Of Disease
Pérez Ortiz, Judit M JM; Mollema, Nissa N; Toker, Nicholas N; Adamski, Carolyn J CJ; O'Callaghan, Brennon B; Duvick, Lisa L; Friedrich, Jillian J; Walters, Michael A MA; Strasser, Jessica J; Hawkinson, Jon E JE; Zoghbi, Huda Y HY; Henzler, Christine C; Orr, Harry T HT; Lagalwar, Sarita S
Publication Date: 2018-08

Variant appearance in text: PC: S776A
PubMed Link: 29758256
Variant Present in the following documents:
  • Main text
View BVdb publication page



A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1.

Elife
Lasagna-Reeves, Cristian A CA; Rousseaux, Maxime Wc MW; Guerrero-Muñoz, Marcos J MJ; Park, Jeehye J; Jafar-Nejad, Paymaan P; Richman, Ronald R; Lu, Nan N; Sengupta, Urmi U; Litvinchuk, Alexandra A; Orr, Harry T HT; Kayed, Rakez R; Zoghbi, Huda Y HY
Publication Date: 2015-05-19

Variant appearance in text: PC: S776A
PubMed Link: 25988806
Variant Present in the following documents:
  • Main text
  • elife07558.pdf
View BVdb publication page



Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1.

Nature Medicine
Cvetanovic, Marija M; Patel, Jay M JM; Marti, Hugo H HH; Kini, Ameet R AR; Opal, Puneet P
Publication Date: 2011-10-16

Variant appearance in text: PC: S776A
PubMed Link: 22001907
Variant Present in the following documents:
  • NIHMS320642-supplement-1.pdf
View BVdb publication page