LRRK2 c.1039_1040delinsCC ;(p.L347P)

Variant ID: 12-40645114-TT-CC

NM_198578.3(LRRK2):c.1039_1040delinsCC;(p.L347P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Targeting Chaperone/Co-Chaperone Interactions with Small Molecules: A Novel Approach to Tackle Neurodegenerative Diseases.

Cells
Wang, Lisha L; Bergkvist, Liza L; Kumar, Rajnish R; Winblad, Bengt B; Pavlov, Pavel F PF
Publication Date: 2021-09-29

Variant appearance in text: LRRK2: L347P
PubMed Link: 34685574
Variant Present in the following documents:
  • cells-10-02596.pdf
View BVdb publication page



Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Frontiers In Integrative Neuroscience
Zou, Li L; Tian, Ye Y; Zhang, Zhentao Z
Publication Date: 2021

Variant appearance in text: LRRK2: L347P
PubMed Link: 34093144
Variant Present in the following documents:
  • fnint-15-619160.pdf
View BVdb publication page



A genetic analysis of a Spanish population with early onset Parkinson's disease.

Plos One
Cristina, Tejera-Parrado TP; Pablo, Mir M; Teresa, Periñán María PM; Lydia, Vela-Desojo VD; Irene, Abreu-Rodríguez AR; Araceli, Alonso-Cánovas AC; Inmaculada, Bernal-Bernal BB; Marta, Bonilla-Toribio BT; Dolores, Buiza-Rueda BR; José, Catalán-Alonso María CM; Rocío, García-Ramos GR; José, García-Ruiz Pedro GP; Ismael, Huertas-Fernández HF; Silvia, Jesús J; Labrador, Miguel A-Espinosa MA; Lydia, López-Manzanares LM; Carlos, Martínez-Castrillo Juan MJ; Posada, Ignacio J IJ; Ana, Rojo-Sebastián RS; Cristina, Ruiz-Huete RH; Javier, Del Val DV; Gómez-Garre, Pilar P
Publication Date: 2020

Variant appearance in text: LRRK2: Leu347Pro
PubMed Link: 32870915
Variant Present in the following documents:
  • pone.0238098.s004.pdf
View BVdb publication page



Hsp90 and Its Co-Chaperones in Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Bohush, Anastasiia A; Bieganowski, Paweł P; Filipek, Anna A
Publication Date: 2019-10-09

Variant appearance in text: LRRK2: L347P
PubMed Link: 31600883
Variant Present in the following documents:
  • ijms-20-04976.pdf
View BVdb publication page



Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Plos Genetics
de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Gilissen, Christian C; van Zelst-Stams, Wendy A WA; Spruijt, Liesbeth L; Kets, C Marleen CM; Zhang, Junxiao J; Venselaar, Hanka H; Vreede, Lilian L; Schubert, Nil N; Tychon, Marloes M; Derks, Ronny R; Schackert, Hans K HK; Geurts van Kessel, Ad A; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ; Kuiper, Roland P RP
Publication Date: 2016-02

Variant appearance in text: LRRK2: L347P
PubMed Link: 26901136
Variant Present in the following documents:
  • pgen.1005880.s003.xlsx, sheet 1
View BVdb publication page



Molecular chaperones as rational drug targets for Parkinson's disease therapeutics.

Cns & Neurological Disorders Drug Targets
Kalia, S K SK; Kalia, L V LV; McLean, P J PJ
Publication Date: 2010-12

Variant appearance in text: LRRK2: L347P
PubMed Link: 20942788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting the progression of Parkinson's disease.

Current Neuropharmacology
George, J L JL; Mok, S S; Moses, D D; Wilkins, S S; Bush, A I AI; Cherny, R A RA; Finkelstein, D I DI
Publication Date: 2009-03

Variant appearance in text: PARK8: L347P
PubMed Link: 19721815
Variant Present in the following documents:
  • CN-7-9.pdf
View BVdb publication page