LRRK2 c.5717A>T ;(p.K1906M)

Variant ID: 12-40722222-A-T

NM_198578.3(LRRK2):c.5717A>T;(p.K1906M)

This variant was identified in 69 publications

View GRCh38 version.




Publications:


Doubly Constrained C-terminal of Roc (COR) Domain-Derived Peptides Inhibit Leucine-Rich Repeat Kinase 2 (LRRK2) Dimerization.

Acs Chemical Neuroscience
Pathak, Pragya P; Alexander, Krista K KK; Helton, Leah G LG; Kentros, Michalis M; LeClair, Timothy J TJ; Zhang, Xiaojuan X; Ho, Franz Y FY; Moore, Timothy T TT; Hall, Scotty S; Guaitoli, Giambattista G; Gloeckner, Christian Johannes CJ; Kortholt, Arjan A; Rideout, Hardy H; Kennedy, Eileen J EJ
Publication Date: 2023-05-18

Variant appearance in text: LRRK2: K1906M
PubMed Link: 37200505
Variant Present in the following documents:
  • Main text
  • cn3c00259.pdf
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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: K1906M
PubMed Link: 35776681
Variant Present in the following documents:
  • Main text
  • biolopen-11-059468.pdf
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LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease.

Translational Neurodegeneration
Pang, Shirley Yin-Yu SY; Lo, Rachel Cheuk Nam RCN; Ho, Philip Wing-Lok PW; Liu, Hui-Fang HF; Chang, Eunice Eun Seo EES; Leung, Chi-Ting CT; Malki, Yasine Y; Choi, Zoe Yuen-Kiu ZY; Wong, Wing Yan WY; Kung, Michelle Hiu-Wai MH; Ramsden, David Boyer DB; Ho, Shu-Leong SL
Publication Date: 2022-01-31

Variant appearance in text: LRRK2: K1906M
PubMed Link: 35101134
Variant Present in the following documents:
  • Main text
  • 40035_2022_Article_281.pdf
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LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease.

Translational Neurodegeneration
Pang, Shirley Yin-Yu SY; Lo, Rachel Cheuk Nam RCN; Ho, Philip Wing-Lok PW; Liu, Hui-Fang HF; Chang, Eunice Eun Seo EES; Leung, Chi-Ting CT; Malki, Yasine Y; Choi, Zoe Yuen-Kiu ZY; Wong, Wing Yan WY; Kung, Michelle Hiu-Wai MH; Ramsden, David Boyer DB; Ho, Shu-Leong SL
Publication Date: 2022-01-31

Variant appearance in text: LRRK2: K1906M
PubMed Link: 35101134
Variant Present in the following documents:
  • Main text
  • 40035_2022_Article_281.pdf
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Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.

Plos Biology
Mamais, Adamantios A; Kluss, Jillian H JH; Bonet-Ponce, Luis L; Landeck, Natalie N; Langston, Rebekah G RG; Smith, Nathan N; Beilina, Alexandra A; Kaganovich, Alice A; Ghosh, Manik C MC; Pellegrini, Laura L; Kumaran, Ravindran R; Papazoglou, Ioannis I; Heaton, George R GR; Bandopadhyay, Rina R; Maio, Nunziata N; Kim, Changyoun C; LaVoie, Matthew J MJ; Gershlick, David C DC; Cookson, Mark R MR
Publication Date: 2021-12

Variant appearance in text: LRRK2: K1906M
PubMed Link: 34914695
Variant Present in the following documents:
  • Main text
  • pbio.3001480.pdf
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Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.

Plos Biology
Mamais, Adamantios A; Kluss, Jillian H JH; Bonet-Ponce, Luis L; Landeck, Natalie N; Langston, Rebekah G RG; Smith, Nathan N; Beilina, Alexandra A; Kaganovich, Alice A; Ghosh, Manik C MC; Pellegrini, Laura L; Kumaran, Ravindran R; Papazoglou, Ioannis I; Heaton, George R GR; Bandopadhyay, Rina R; Maio, Nunziata N; Kim, Changyoun C; LaVoie, Matthew J MJ; Gershlick, David C DC; Cookson, Mark R MR
Publication Date: 2021-12

Variant appearance in text: LRRK2: K1906M
PubMed Link: 34914695
Variant Present in the following documents:
  • Main text
  • pbio.3001480.pdf
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Generation of fourteen isogenic cell lines for Parkinson's disease-associated leucine-rich repeat kinase (LRRK2).

Stem Cell Research
Beylina, Aleksandra A; Langston, Rebekah G RG; Rosen, Dorien D; Reed, Xylena X; Cookson, Mark R MR
Publication Date: 2021-05

Variant appearance in text: LRRK2: K1906M
PubMed Link: 34087985
Variant Present in the following documents:
  • Main text
  • nihms-1717181.pdf
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Oligomerization of Lrrk controls actin severing and α-synuclein neurotoxicity in vivo.

Molecular Neurodegeneration
Sarkar, Souvarish S; Bardai, Farah F; Olsen, Abby L AL; Lohr, Kelly M KM; Zhang, Ying-Yi YY; Feany, Mel B MB
Publication Date: 2021-05-24

Variant appearance in text: LRRK2: K1906M
PubMed Link: 34030727
Variant Present in the following documents:
  • Main text
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LRRK2 inhibition potentiates PARP inhibitor cytotoxicity through inhibiting homologous recombination-mediated DNA double strand break repair.

Clinical And Translational Medicine
Chen, Lifeng L; Hou, Jing J; Zeng, Xiangyu X; Guo, Qiang Q; Deng, Min M; Kloeber, Jake A JA; Tu, Xinyi X; Zhao, Fei F; Wu, Zheming Z; Huang, Jinzhou J; Luo, Kuntian K; Kim, Wootae W; Lou, Zhenkun Z
Publication Date: 2021-03

Variant appearance in text: LRRK2: K1906M
PubMed Link: 33784003
Variant Present in the following documents:
  • Main text
  • CTM2-11-e341.pdf
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Preclinical modeling of chronic inhibition of the Parkinson's disease associated kinase LRRK2 reveals altered function of the endolysosomal system in vivo.

Molecular Neurodegeneration
Kluss, Jillian H JH; Mazza, Melissa Conti MC; Li, Yan Y; Manzoni, Claudia C; Lewis, Patrick A PA; Cookson, Mark R MR; Mamais, Adamantios A
Publication Date: 2021-03-19

Variant appearance in text: LRRK2: K1906M
PubMed Link: 33741046
Variant Present in the following documents:
  • Main text
  • 13024_2021_Article_441.pdf
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LRRK2 mediates tubulation and vesicle sorting from lysosomes.

Science Advances
Bonet-Ponce, Luis L; Beilina, Alexandra A; Williamson, Chad D CD; Lindberg, Eric E; Kluss, Jillian H JH; Saez-Atienzar, Sara S; Landeck, Natalie N; Kumaran, Ravindran R; Mamais, Adamantios A; Bleck, Christopher K E CKE; Li, Yan Y; Cookson, Mark R MR
Publication Date: 2020-11

Variant appearance in text: LRRK2: K1906M
PubMed Link: 33177079
Variant Present in the following documents:
  • Main text
  • supp_6_46_eabb2454__1.pdf
  • abb2454_SM.pdf
  • abb2454.pdf
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LRRK2 mediates tubulation and vesicle sorting from lysosomes.

Science Advances
Bonet-Ponce, Luis L; Beilina, Alexandra A; Williamson, Chad D CD; Lindberg, Eric E; Kluss, Jillian H JH; Saez-Atienzar, Sara S; Landeck, Natalie N; Kumaran, Ravindran R; Mamais, Adamantios A; Bleck, Christopher K E CKE; Li, Yan Y; Cookson, Mark R MR
Publication Date: 2020-11

Variant appearance in text: LRRK2: K1906M
PubMed Link: 33177079
Variant Present in the following documents:
  • Main text
  • supp_6_46_eabb2454__1.pdf
  • abb2454_SM.pdf
  • abb2454.pdf
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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: K1906M
PubMed Link: 33013290
Variant Present in the following documents:
  • Main text
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Pathogenic LRRK2 requires secondary factors to induce cellular toxicity.

Bioscience Reports
Lobbestael, Evy E; Van den Haute, Chris C; Macchi, Francesca F; Taymans, Jean-Marc JM; Baekelandt, Veerle V
Publication Date: 2020-10-30

Variant appearance in text: LRRK2: K1906M
PubMed Link: 32975566
Variant Present in the following documents:
  • Main text
  • BSR-2020-2225_supp.pdf
  • bsr-40-bsr20202225.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: K1906M
PubMed Link: 32631998
Variant Present in the following documents:
  • Main text
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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: K1906M
PubMed Link: 32612495
Variant Present in the following documents:
  • Main text
  • fnins-14-00527.pdf
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The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.

Cell Reports
Beilina, Alexandra A; Bonet-Ponce, Luis L; Kumaran, Ravindran R; Kordich, Jennifer J JJ; Ishida, Morié M; Mamais, Adamantios A; Kaganovich, Alice A; Saez-Atienzar, Sara S; Gershlick, David C DC; Roosen, Dorien A DA; Pellegrini, Laura L; Malkov, Vlad V; Fell, Matthew J MJ; Harvey, Kirsten K; Bonifacino, Juan S JS; Moore, Darren J DJ; Cookson, Mark R MR
Publication Date: 2020-05-05

Variant appearance in text: LRRK2: K1906M
PubMed Link: 32375042
Variant Present in the following documents:
  • Main text
  • NIHMS1591489-supplement-4.pdf
  • nihms-1591489.pdf
  • NIHMS1591489-supplement-1.pdf
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Autophagy and LRRK2 in the Aging Brain.

Frontiers In Neuroscience
Albanese, Federica F; Novello, Salvatore S; Morari, Michele M
Publication Date: 2019

Variant appearance in text: LRRK2: K1906M
PubMed Link: 31920513
Variant Present in the following documents:
  • Main text
  • fnins-13-01352.pdf
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RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits.

Human Molecular Genetics
Lara Ordónez, Antonio Jesús AJ; Fernández, Belén B; Fdez, Elena E; Romo-Lozano, María M; Madero-Pérez, Jesús J; Lobbestael, Evy E; Baekelandt, Veerle V; Aiastui, Ana A; López de Munaín, Adolfo A; Melrose, Heather L HL; Civiero, Laura L; Hilfiker, Sabine S
Publication Date: 2019-11-01

Variant appearance in text: LRRK2: K1906M
PubMed Link: 31428781
Variant Present in the following documents:
  • Main text
  • ddz201.pdf
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The dynamic switch mechanism that leads to activation of LRRK2 is embedded in the DFGψ motif in the kinase domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schmidt, Sven H SH; Knape, Matthias J MJ; Boassa, Daniela D; Mumdey, Natascha N; Kornev, Alexandr P AP; Ellisman, Mark H MH; Taylor, Susan S SS; Herberg, Friedrich W FW
Publication Date: 2019-07-23

Variant appearance in text: LRRK2: K1906M
PubMed Link: 31292254
Variant Present in the following documents:
  • Main text
  • pnas.1900289116.sapp.pdf
  • pnas.201900289.pdf
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Lrrk promotes tau neurotoxicity through dysregulation of actin and mitochondrial dynamics.

Plos Biology
Bardai, Farah H FH; Ordonez, Dalila G DG; Bailey, Rachel M RM; Hamm, Matthew M; Lewis, Jada J; Feany, Mel B MB
Publication Date: 2018-12

Variant appearance in text: LRRK2: K1906M
PubMed Link: 30571694
Variant Present in the following documents:
  • Main text
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RAB7L1-Mediated Relocalization of LRRK2 to the Golgi Complex Causes Centrosomal Deficits via RAB8A.

Frontiers In Molecular Neuroscience
Madero-Pérez, Jesús J; Fernández, Belén B; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Lobbestael, Evy E; Baekelandt, Veerle V; Hilfiker, Sabine S
Publication Date: 2018

Variant appearance in text: LRRK2: K1906M
PubMed Link: 30483055
Variant Present in the following documents:
  • Main text
  • fnmol-11-00417.pdf
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Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2.

Neurochemical Research
Langston, Rebekah G RG; Rudenko, Iakov N IN; Kumaran, Ravindran R; Hauser, David N DN; Kaganovich, Alice A; Ponce, Luis Bonet LB; Mamais, Adamantios A; Ndukwe, Kelechi K; Dillman, Allissa A AA; Al-Saif, Amr M AM; Beilina, Aleksandra A; Cookson, Mark R MR
Publication Date: 2019-06

Variant appearance in text: LRRK2: K1906M
PubMed Link: 30291536
Variant Present in the following documents:
  • Main text
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LRRK2 and its substrate Rab GTPases are sequentially targeted onto stressed lysosomes and maintain their homeostasis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Eguchi, Tomoya T; Kuwahara, Tomoki T; Sakurai, Maria M; Komori, Tadayuki T; Fujimoto, Tetta T; Ito, Genta G; Yoshimura, Shin-Ichiro SI; Harada, Akihiro A; Fukuda, Mitsunori M; Koike, Masato M; Iwatsubo, Takeshi T
Publication Date: 2018-09-25

Variant appearance in text: LRRK2: K1906M
PubMed Link: 30209220
Variant Present in the following documents:
  • Main text
  • pnas.201812196.pdf
  • pnas.1812196115.sapp.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: K1906M
PubMed Link: 29707617
Variant Present in the following documents:
  • Main text
  • 41531_2018_Article_49.pdf
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The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

Frontiers In Molecular Neuroscience
Perez Carrion, Maria M; Pischedda, Francesca F; Biosa, Alice A; Russo, Isabella I; Straniero, Letizia L; Civiero, Laura L; Guida, Marianna M; Gloeckner, Christian J CJ; Ticozzi, Nicola N; Tiloca, Cinzia C; Mariani, Claudio C; Pezzoli, Gianni G; Duga, Stefano S; Pichler, Irene I; Pan, Lifeng L; Landers, John E JE; Greggio, Elisa E; Hess, Michael W MW; Goldwurm, Stefano S; Piccoli, Giovanni G
Publication Date: 2018

Variant appearance in text: LRRK2: K1906M
PubMed Link: 29541021
Variant Present in the following documents:
  • Main text
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Distinctive roles of Rac1 and Rab29 in LRRK2 mediated membrane trafficking and neurite outgrowth.

Journal Of Biomedical Research
Feng, Min M; Hu, Xin X; Li, Na N; Hu, Fan F; Chang, Fei F; Xu, Hong-Fei HF; Liu, Yong-Jian YJ
Publication Date: 2018-03-26

Variant appearance in text: LRRK2: K1906M
PubMed Link: 29336357
Variant Present in the following documents:
  • jbr-32-02-145.pdf
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Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag.

Journal Of Visualized Experiments : Jove
Ito, Genta G; Tomita, Taisuke T
Publication Date: 2017-12-14

Variant appearance in text: LRRK2: K1906M
PubMed Link: 29286425
Variant Present in the following documents:
  • Main text
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Targeted kinase inhibition relieves slowness and tremor in a Drosophila model of LRRK2 Parkinson's disease.

Npj Parkinson'S Disease
Cording, Amy C AC; Shiaelis, Nicolas N; Petridi, Stavroula S; Middleton, C Adam CA; Wilson, Laurence G LG; Elliott, Christopher J H CJH
Publication Date: 2017

Variant appearance in text: LRRK2: K1906M
PubMed Link: 29214211
Variant Present in the following documents:
  • Main text
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Mitochondrial Calcium Dysregulation Contributes to Dendrite Degeneration Mediated by PD/LBD-Associated LRRK2 Mutants.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Verma, Manish M; Callio, Jason J; Otero, P Anthony PA; Sekler, Israel I; Wills, Zachary P ZP; Chu, Charleen T CT
Publication Date: 2017-11-15

Variant appearance in text: LRRK2: K1906M
PubMed Link: 29038245
Variant Present in the following documents:
  • Main text
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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: K1906M
PubMed Link: 28453723
Variant Present in the following documents:
  • Main text
  • ddx161.pdf
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LRRK2 enhances Nod1/2-mediated inflammatory cytokine production by promoting Rip2 phosphorylation.

Protein & Cell
Yan, Ruiqing R; Liu, Zhihua Z
Publication Date: 2017-01

Variant appearance in text: LRRK2: K1906M
PubMed Link: 27830463
Variant Present in the following documents:
  • Main text
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Pharmacological LRRK2 kinase inhibition induces LRRK2 protein destabilization and proteasomal degradation.

Scientific Reports
Lobbestael, E E; Civiero, L L; De Wit, T T; Taymans, J-M JM; Greggio, E E; Baekelandt, V V
Publication Date: 2016-09-23

Variant appearance in text: LRRK2: K1906M
PubMed Link: 27658356
Variant Present in the following documents:
  • Main text
  • srep33897.pdf
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LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate.

Molecular Neurodegeneration
Belluzzi, Elisa E; Gonnelli, Adriano A; Cirnaru, Maria-Daniela MD; Marte, Antonella A; Plotegher, Nicoletta N; Russo, Isabella I; Civiero, Laura L; Cogo, Susanna S; Carrion, Maria Perèz MP; Franchin, Cinzia C; Arrigoni, Giorgio G; Beltramini, Mariano M; Bubacco, Luigi L; Onofri, Franco F; Piccoli, Giovanni G; Greggio, Elisa E
Publication Date: 2016-01-13

Variant appearance in text: LRRK2: K1906M
PubMed Link: 26758690
Variant Present in the following documents:
  • Main text
  • 13024_2015_Article_66.pdf
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Leucine-rich repeat kinase 2 interacts with p21-activated kinase 6 to control neurite complexity in mammalian brain.

Journal Of Neurochemistry
Civiero, Laura L; Cirnaru, Maria Daniela MD; Beilina, Alexandra A; Rodella, Umberto U; Russo, Isabella I; Belluzzi, Elisa E; Lobbestael, Evy E; Reyniers, Lauran L; Hondhamuni, Geshanthi G; Lewis, Patrick A PA; Van den Haute, Chris C; Baekelandt, Veerle V; Bandopadhyay, Rina R; Bubacco, Luigi L; Piccoli, Giovanni G; Cookson, Mark R MR; Taymans, Jean-Marc JM; Greggio, Elisa E
Publication Date: 2015-12

Variant appearance in text: LRRK2: K1906M
PubMed Link: 26375402
Variant Present in the following documents:
  • Main text
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Cellular processes associated with LRRK2 function and dysfunction.

The Febs Journal
Wallings, Rebecca R; Manzoni, Claudia C; Bandopadhyay, Rina R
Publication Date: 2015-08

Variant appearance in text: LRRK2: K1906M
PubMed Link: 25899482
Variant Present in the following documents:
  • Main text
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Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7.

Nature Communications
Chia, Ruth R; Haddock, Sara S; Beilina, Alexandra A; Rudenko, Iakov N IN; Mamais, Adamantios A; Kaganovich, Alice A; Li, Yan Y; Kumaran, Ravindran R; Nalls, Michael A MA; Cookson, Mark R MR
Publication Date: 2014-12-15

Variant appearance in text: LRRK2: K1906M
PubMed Link: 25500533
Variant Present in the following documents:
  • Main text
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