LRRK2 c.5281A>C ;(p.S1761R)

Variant ID: 12-40715947-A-C

NM_198578.3(LRRK2):c.5281A>C;(p.S1761R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Genes
Thakur, Gunjan G; Kumar, Vikas V; Lee, Keun Woo KW; Won, Chungkil C
Publication Date: 2022-08-11

Variant appearance in text: LRRK2: S1761R
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
View BVdb publication page



Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal
Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR
Publication Date: 2022-09-16

Variant appearance in text: LRRK2: Ser1761Arg
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759.pdf
  • BCJ-479-1759-s1.pdf
View BVdb publication page



Cognitive Impairment in Genetic Parkinson's Disease.

Parkinson'S Disease
Planas-Ballvé, A A; Vilas, D D
Publication Date: 2021

Variant appearance in text: LRRK2: S1761R
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
  • PD2021-8610285.pdf
View BVdb publication page



Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: S1761R
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease.

Frontiers In Neuroscience
Rideout, Hardy J HJ; Chartier-Harlin, Marie-Christine MC; Fell, Matthew J MJ; Hirst, Warren D WD; Huntwork-Rodriguez, Sarah S; Leyns, Cheryl E G CEG; Mabrouk, Omar S OS; Taymans, Jean-Marc JM
Publication Date: 2020

Variant appearance in text: LRRK2: Ser1761Arg
PubMed Link: 33013290
Variant Present in the following documents:
  • Main text
  • fnins-14-00865.pdf
View BVdb publication page



Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Journal Of Neurochemistry
Hernandez, Dena G DG; Reed, Xylena X; Singleton, Andrew B AB
Publication Date: 2016-10

Variant appearance in text: LRRK2: S1761R
PubMed Link: 27090875
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2: cause, risk, and mechanism.

Journal Of Parkinson'S Disease
Paisán-Ruiz, Coro C; Lewis, Patrick A PA; Singleton, Andrew B AB
Publication Date: 2013

Variant appearance in text: LRRK2: S1761R
PubMed Link: 23938341
Variant Present in the following documents:
  • Main text
  • nihms516093.pdf
View BVdb publication page



Novel Lrrk2-p.S1761R mutation is not a common cause of Parkinson's disease in Spain.

Movement Disorders : Official Journal Of The Movement Disorder Society
Mata, Ignacio F IF; Alvarez, Victoria V; Ribacoba, Renee R; Infante, Jon J; Sierra, María M; Gómez-Garre, Pilar P; Mir, Pablo P; Waldherr, Sarah S; Yearout, Dora D; Zabetian, Cyrus P CP
Publication Date: 2013-02

Variant appearance in text: LRRK2: 5281A>C; S1761R
PubMed Link: 23389884
Variant Present in the following documents:
  • Main text
View BVdb publication page