LRRK2 c.4027_4028inv ;(p.T1343V)

Variant ID: 12-40702336-AC-GT

NM_198578.3(LRRK2):c.4027_4028inv;(p.T1343V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization.

Biology Open
Lara Ordóñez, Antonio Jesús AJ; Fasiczka, Rachel R; Fernández, Belén B; Naaldijk, Yahaira Y; Fdez, Elena E; Blanca Ramírez, Marian M; Phan, Sébastien S; Boassa, Daniela D; Hilfiker, Sabine S
Publication Date: 2022-08-15

Variant appearance in text: LRRK2: T1343V
PubMed Link: 35776681
Variant Present in the following documents:
  • Main text
  • biolopen-11-059468-s1.pdf
  • biolopen-11-059468.pdf
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Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Nguyen, An Phu Tran APT; Tsika, Elpida E; Kelly, Kaela K; Levine, Nathan N; Chen, Xi X; West, Andrew B AB; Boularand, Sylviane S; Barneoud, Pascal P; Moore, Darren J DJ
Publication Date: 2020-07-21

Variant appearance in text: LRRK2: T1343V
PubMed Link: 32631998
Variant Present in the following documents:
  • Main text
  • pnas.201922184.pdf
View BVdb publication page



Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications
, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P
Publication Date: 2019-01-02

Variant appearance in text: PARK8: T1343V
PubMed Link: 30602777
Variant Present in the following documents:
  • 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Roco Proteins and the Parkinson's Disease-Associated LRRK2.

International Journal Of Molecular Sciences
Liao, Jingling J; Hoang, Quyen Q QQ
Publication Date: 2018-12-17

Variant appearance in text: LRRK2: T1343V
PubMed Link: 30562929
Variant Present in the following documents:
  • Main text
  • ijms-19-04074.pdf
View BVdb publication page



GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2.

Human Molecular Genetics
Blanca Ramírez, Marian M; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Madero-Pérez, Jesús J; Gonnelli, Adriano A; Drouyer, Matthieu M; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Bubacco, Luigi L; Greggio, Elisa E; Hilfiker, Sabine S
Publication Date: 2017-07-15

Variant appearance in text: LRRK2: T1343V
PubMed Link: 28453723
Variant Present in the following documents:
  • Main text
  • ddx161.pdf
View BVdb publication page



Understanding the GTPase Activity of LRRK2: Regulation, Function, and Neurotoxicity.

Advances In Neurobiology
Nguyen, An Phu Tran AP; Moore, Darren J DJ
Publication Date: 2017

Variant appearance in text: LRRK2: T1343V
PubMed Link: 28353279
Variant Present in the following documents:
  • Main text
View BVdb publication page