LRRK2 c.3874_3875delinsGC ;(p.S1292A)

Variant ID: 12-40699683-AG-GC

NM_198578.3(LRRK2):c.3874_3875delinsGC;(p.S1292A)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Evaluation of Current Methods to Detect Cellular Leucine-Rich Repeat Kinase 2 (LRRK2) Kinase Activity.

Journal Of Parkinson'S Disease
Fernández, Belén B; Chittoor-Vinod, Vinita G VG; Kluss, Jillian H JH; Kelly, Kaela K; Bryant, Nicole N; Nguyen, An Phu Tran APT; Bukhari, Syed A SA; Smith, Nathan N; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Chartier-Harlin, Marie-Christine MC; Montine, Thomas J TJ; Wilson, Mark A MA; Moore, Darren J DJ; West, Andrew B AB; Cookson, Mark R MR; Nichols, R Jeremy RJ; Hilfiker, Sabine S
Publication Date: 2022

Variant appearance in text: LRRK2: S1292A
PubMed Link: 35599495
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd213128.pdf
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A Phosphosite Mutant Approach on LRRK2 Links Phosphorylation and Dephosphorylation to Protective and Deleterious Markers, Respectively.

Cells
Marchand, Antoine A; Sarchione, Alessia A; Athanasopoulos, Panagiotis S PS; Roy, Hélène Bauderlique-Le HB; Goveas, Liesel L; Magnez, Romain R; Drouyer, Matthieu M; Emanuele, Marco M; Ho, Franz Y FY; Liberelle, Maxime M; Melnyk, Patricia P; Lebègue, Nicolas N; Thuru, Xavier X; Nichols, R Jeremy RJ; Greggio, Elisa E; Kortholt, Arjan A; Galli, Thierry T; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2022-03-17

Variant appearance in text: LRRK2: S1292A
PubMed Link: 35326469
Variant Present in the following documents:
  • Main text
  • cells-11-01018.pdf
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LRRK2 Phosphorylation, More Than an Epiphenomenon.

Frontiers In Neuroscience
Marchand, Antoine A; Drouyer, Matthieu M; Sarchione, Alessia A; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2020

Variant appearance in text: LRRK2: S1292A
PubMed Link: 32612495
Variant Present in the following documents:
  • Main text
  • fnins-14-00527.pdf
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LRRK2 regulates endoplasmic reticulum-mitochondrial tethering through the PERK-mediated ubiquitination pathway.

The Embo Journal
Toyofuku, Toshihiko T; Okamoto, Yuki Y; Ishikawa, Takako T; Sasawatari, Shigemi S; Kumanogoh, Atsushi A
Publication Date: 2020-01-15

Variant appearance in text: LRRK2: S1292A
PubMed Link: 31821596
Variant Present in the following documents:
  • Main text
  • EMBJ-39-e100875.pdf
  • EMBJ-39-e100875-s010.pdf
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Detection of endogenous S1292 LRRK2 autophosphorylation in mouse tissue as a readout for kinase activity.

Npj Parkinson'S Disease
Kluss, Jillian H JH; Conti, Melissa M MM; Kaganovich, Alice A; Beilina, Aleksandra A; Melrose, Heather L HL; Cookson, Mark R MR; Mamais, Adamantios A
Publication Date: 2018

Variant appearance in text: LRRK2: S1292A
PubMed Link: 29707617
Variant Present in the following documents:
  • Main text
  • 41531_2018_Article_49.pdf
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Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

The Embo Journal
Purlyte, Elena E; Dhekne, Herschel S HS; Sarhan, Adil R AR; Gomez, Rachel R; Lis, Pawel P; Wightman, Melanie M; Martinez, Terina N TN; Tonelli, Francesca F; Pfeffer, Suzanne R SR; Alessi, Dario R DR
Publication Date: 2018-01-04

Variant appearance in text: LRRK2: S1292A
PubMed Link: 29212815
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network.

Human Molecular Genetics
Liu, Zhiyong Z; Bryant, Nicole N; Kumaran, Ravindran R; Beilina, Alexandra A; Abeliovich, Asa A; Cookson, Mark R MR; West, Andrew B AB
Publication Date: 2018-01-15

Variant appearance in text: LRRK2: S1292A
PubMed Link: 29177506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Elevated LRRK2 autophosphorylation in brain-derived and peripheral exosomes in LRRK2 mutation carriers.

Acta Neuropathologica Communications
Wang, Shijie S; Liu, Zhiyong Z; Ye, Tao T; Mabrouk, Omar S OS; Maltbie, Tyler T; Aasly, Jan J; West, Andrew B AB
Publication Date: 2017-11-22

Variant appearance in text: LRRK2: S1292A
PubMed Link: 29166931
Variant Present in the following documents:
  • Main text
  • 40478_2017_Article_492.pdf
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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: S1292A
PubMed Link: 28453723
Variant Present in the following documents:
  • Main text
  • ddx161.pdf
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Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Plos One
Melachroinou, Katerina K; Leandrou, Emmanouela E; Valkimadi, Polytimi-Eleni PE; Memou, Anna A; Hadjigeorgiou, Georgios G; Stefanis, Leonidas L; Rideout, Hardy J HJ
Publication Date: 2016

Variant appearance in text: LRRK2: S1292A
PubMed Link: 27832104
Variant Present in the following documents:
  • Main text
  • pone.0166053.pdf
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Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers.

Neurology
Fraser, Kyle B KB; Moehle, Mark S MS; Alcalay, Roy N RN; West, Andrew B AB; ,
Publication Date: 2016-03-15

Variant appearance in text: LRRK2: S1292A
PubMed Link: 26865512
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2 dephosphorylation increases its ubiquitination.

The Biochemical Journal
Zhao, Jing J; Molitor, Tyler P TP; Langston, J William JW; Nichols, R Jeremy RJ
Publication Date: 2015-07-01

Variant appearance in text: LRRK2: S1292A
PubMed Link: 25939886
Variant Present in the following documents:
  • Main text
  • bj4690107.pdf
View BVdb publication page