LRRK2 c.5981A>C ;(p.D1994A)

Variant ID: 12-40734128-A-C

NM_198578.3(LRRK2):c.5981A>C;(p.D1994A)

This variant was identified in 84 publications

View GRCh38 version.




Publications:


Precision Medicine in Parkinson's Disease: From Genetic Risk Signals to Personalized Therapy.

Brain Sciences
Straccia, Giulia G; Colucci, Fabiana F; Eleopra, Roberto R; Cilia, Roberto R
Publication Date: 2022-09-28

Variant appearance in text: LRRK2: D1994A
PubMed Link: 36291241
Variant Present in the following documents:
  • Main text
  • brainsci-12-01308.pdf
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Dysregulation of the AP2M1 phosphorylation cycle by LRRK2 impairs endocytosis and leads to dopaminergic neurodegeneration.

Science Signaling
Liu, Qinfang Q; Bautista-Gomez, Judith J; Higgins, Daniel A DA; Yu, Jianzhong J; Xiong, Yulan Y
Publication Date: 2021-07-27

Variant appearance in text: LRRK2: D1994A
PubMed Link: 34315807
Variant Present in the following documents:
  • Main text
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LRRK2 Kinase Inhibitor Rejuvenates Oxidative Stress-Induced Cellular Senescence in Neuronal Cells.

Oxidative Medicine And Cellular Longevity
Ho, Dong Hwan DH; Nam, Daleum D; Seo, Mi Kyoung MK; Park, Sung Woo SW; Seol, Wongi W; Son, Ilhong I
Publication Date: 2021

Variant appearance in text: LRRK2: D1994A
PubMed Link: 34306319
Variant Present in the following documents:
  • Main text
  • OMCL2021-9969842.pdf
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The C-Terminal Domain of LRRK2 with the G2019S Substitution Increases Mutant A53T α-Synuclein Toxicity in Dopaminergic Neurons In Vivo.

International Journal Of Molecular Sciences
Cresto, Noémie N; Gardier, Camille C; Gaillard, Marie-Claude MC; Gubinelli, Francesco F; Roost, Pauline P; Molina, Daniela D; Josephine, Charlène C; Dufour, Noëlle N; Auregan, Gwenaëlle G; Guillermier, Martine M; Bernier, Suéva S; Jan, Caroline C; Gipchtein, Pauline P; Hantraye, Philippe P; Chartier-Harlin, Marie-Christine MC; Bonvento, Gilles G; Van Camp, Nadja N; Taymans, Jean-Marc JM; Cambon, Karine K; Liot, Géraldine G; Bemelmans, Alexis-Pierre AP; Brouillet, Emmanuel E
Publication Date: 2021-06-23

Variant appearance in text: LRRK2: D1994A
PubMed Link: 34201785
Variant Present in the following documents:
  • Main text
  • ijms-22-06760.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: D1994A
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: D1994A
PubMed Link: 33784003
Variant Present in the following documents:
  • Main text
  • CTM2-11-e341.pdf
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Pathological Functions of LRRK2 in Parkinson's Disease.

Cells
Jeong, Ga Ram GR; Lee, Byoung Dae BD
Publication Date: 2020-11-30

Variant appearance in text: LRRK2: D1994A
PubMed Link: 33266247
Variant Present in the following documents:
  • Main text
  • cells-09-02565.pdf
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LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies.

Science Translational Medicine
Kim, Changyoun C; Beilina, Alexandria A; Smith, Nathan N; Li, Yan Y; Kim, Minhyung M; Kumaran, Ravindran R; Kaganovich, Alice A; Mamais, Adamantios A; Adame, Anthony A; Iba, Michiyo M; Kwon, Somin S; Lee, Won-Jae WJ; Shin, Soo-Jean SJ; Rissman, Robert A RA; You, Sungyong S; Lee, Seung-Jae SJ; Singleton, Andrew B AB; Cookson, Mark R MR; Masliah, Eliezer E
Publication Date: 2020-10-14

Variant appearance in text: LRRK2: D1994A
PubMed Link: 33055242
Variant Present in the following documents:
  • Main text
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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: D1994A
PubMed Link: 33013290
Variant Present in the following documents:
  • Main text
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Chetomin rescues pathogenic phenotype of LRRK2 mutation in drosophila.

Aging
Chua, Ling Ling LL; Ho, Patrick P; Toh, Joanne J; Tan, Eng-King EK
Publication Date: 2020-09-24

Variant appearance in text: LRRK2: D1994A
PubMed Link: 32990658
Variant Present in the following documents:
  • Main text
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Mitochondrial Mechanisms of LRRK2 G2019S Penetrance.

Frontiers In Neurology
Delcambre, Sylvie S; Ghelfi, Jenny J; Ouzren, Nassima N; Grandmougin, Léa L; Delbrouck, Catherine C; Seibler, Philip P; Wasner, Kobi K; Aasly, Jan O JO; Klein, Christine C; Trinh, Joanne J; Pereira, Sandro L SL; Grünewald, Anne A
Publication Date: 2020

Variant appearance in text: LRRK2: D1994A
PubMed Link: 32982917
Variant Present in the following documents:
  • Main text
  • fneur-11-00881.pdf
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Defects in mRNA Translation in LRRK2-Mutant hiPSC-Derived Dopaminergic Neurons Lead to Dysregulated Calcium Homeostasis.

Cell Stem Cell
Kim, Jungwoo Wren JW; Yin, Xiling X; Jhaldiyal, Aanishaa A; Khan, Mohammed Repon MR; Martin, Ian I; Xie, Zhong Z; Perez-Rosello, Tamara T; Kumar, Manoj M; Abalde-Atristain, Leire L; Xu, Jinchong J; Chen, Li L; Eacker, Stephen M SM; Surmeier, D James DJ; Ingolia, Nicholas T NT; Dawson, Ted M TM; Dawson, Valina L VL
Publication Date: 2020-10-01

Variant appearance in text: LRRK2: D1994A
PubMed Link: 32846140
Variant Present in the following documents:
  • Main text
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Progress in LRRK2-Associated Parkinson's Disease Animal Models.

Frontiers In Neuroscience
Seegobin, Steven P SP; Heaton, George R GR; Liang, Dongxiao D; Choi, Insup I; Blanca Ramirez, Marian M; Tang, Beisha B; Yue, Zhenyu Z
Publication Date: 2020

Variant appearance in text: LRRK2: D1994A
PubMed Link: 32765209
Variant Present in the following documents:
  • Main text
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LRRK2 mediates axon development by regulating Frizzled3 phosphorylation and growth cone-growth cone communication.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Onishi, Keisuke K; Tian, Runyi R; Feng, Bo B; Liu, Yiqiong Y; Wang, Junkai J; Li, Yinan Y; Zou, Yimin Y
Publication Date: 2020-07-28

Variant appearance in text: LRRK2: D1994A
PubMed Link: 32641508
Variant Present in the following documents:
  • Main text
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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: D1994A
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: D1994A
PubMed Link: 32612495
Variant Present in the following documents:
  • Main text
  • fnins-14-00527.pdf
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Dietary Amino Acids Impact LRRK2-Induced Neurodegeneration in Parkinson's Disease Models.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Chittoor-Vinod, Vinita G VG; Villalobos-Cantor, Steffany S; Roshak, Hanna H; Shea, Kelsey K; Abalde-Atristain, Leire L; Martin, Ian I
Publication Date: 2020-08-05

Variant appearance in text: LRRK2: D1994A
PubMed Link: 32605938
Variant Present in the following documents:
  • Main text
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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: D1994A
PubMed Link: 31920513
Variant Present in the following documents:
  • Main text
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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: D1994A
PubMed Link: 31821596
Variant Present in the following documents:
  • Main text
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LRRK2 regulation of immune-pathways and inflammatory disease.

Biochemical Society Transactions
Wallings, Rebecca L RL; Tansey, Malú G MG
Publication Date: 2019-12-20

Variant appearance in text: LRRK2: D1994A
PubMed Link: 31769472
Variant Present in the following documents:
  • Main text
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Role of endolysosomes and inter-organellar signaling in brain disease.

Neurobiology Of Disease
Afghah, Zahra Z; Chen, Xuesong X; Geiger, Jonathan D JD
Publication Date: 2020-02

Variant appearance in text: LRRK2: D1994A
PubMed Link: 31707116
Variant Present in the following documents:
  • Main text
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Identification of PP2A and S6 Kinase as Modifiers of Leucine-Rich Repeat Kinase-Induced Neurotoxicity.

Neuromolecular Medicine
Sim, Joan Poh Ling JPL; Ziyin, Wang W; Basil, Adeline Henry AH; Lin, Shuping S; Chen, Zhongcan Z; Zhang, Chengwu C; Zeng, Li L; Cai, Yu Y; Lim, Kah-Leong KL
Publication Date: 2020-06

Variant appearance in text: LRRK2: D1994A
PubMed Link: 31664682
Variant Present in the following documents:
  • Main text
  • 12017_2019_Article_8577.pdf
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Parkinson's disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes.

Acta Neuropathologica Communications
Lee, Jee Hoon JH; Han, Ji-Hye JH; Kim, Hyunmi H; Park, Sang Myun SM; Joe, Eun-Hye EH; Jou, Ilo I
Publication Date: 2019-05-02

Variant appearance in text: LRRK2: D1994A
PubMed Link: 31046837
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_716.pdf
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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: D1994A
PubMed Link: 30602777
Variant Present in the following documents:
  • 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1
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LRRK2 kinase regulates α-synuclein propagation via RAB35 phosphorylation.

Nature Communications
Bae, Eun-Jin EJ; Kim, Dong-Kyu DK; Kim, Changyoun C; Mante, Michael M; Adame, Anthony A; Rockenstein, Edward E; Ulusoy, Ayse A; Klinkenberg, Michael M; Jeong, Ga Ram GR; Bae, Jae Ryul JR; Lee, Cheolsoon C; Lee, He-Jin HJ; Lee, Byung-Dae BD; Di Monte, Donato A DA; Masliah, Eliezer E; Lee, Seung-Jae SJ
Publication Date: 2018-08-27

Variant appearance in text: LRRK2: D1994A
PubMed Link: 30150626
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_5958.pdf
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Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kim, Kwang Soo KS; Marcogliese, Paul C PC; Yang, Jungwoo J; Callaghan, Steve M SM; Resende, Virginia V; Abdel-Messih, Elizabeth E; Marras, Connie C; Visanji, Naomi P NP; Huang, Jana J; Schlossmacher, Michael G MG; Trinkle-Mulcahy, Laura L; Slack, Ruth S RS; Lang, Anthony E AE; , ; Park, David S DS
Publication Date: 2018-05-29

Variant appearance in text: LRRK2: D1994A
PubMed Link: 29760073
Variant Present in the following documents:
  • Main text
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Dysregulated phosphorylation of Rab GTPases by LRRK2 induces neurodegeneration.

Molecular Neurodegeneration
Jeong, Ga Ram GR; Jang, Eun-Hae EH; Bae, Jae Ryul JR; Jun, Soyoung S; Kang, Ho Chul HC; Park, Chi-Hu CH; Shin, Joo-Ho JH; Yamamoto, Yukio Y; Tanaka-Yamamoto, Keiko K; Dawson, Valina L VL; Dawson, Ted M TM; Hur, Eun-Mi EM; Lee, Byoung Dae BD
Publication Date: 2018-02-13

Variant appearance in text: LRRK2: D1994A
PubMed Link: 29439717
Variant Present in the following documents:
  • Main text
  • 13024_2018_Article_240.pdf
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In Vitro Modeling of Leucine-Rich Repeat Kinase 2 G2019S-Mediated Parkinson's Disease Pathology.

Stem Cells And Development
Vermilyea, Scott C SC; Emborg, Marina E ME
Publication Date: 2018-07-15

Variant appearance in text: LRRK2: D1994A
PubMed Link: 29402177
Variant Present in the following documents:
  • Main text
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Robust kinase- and age-dependent dopaminergic and norepinephrine neurodegeneration in LRRK2 G2019S transgenic mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Xiong, Yulan Y; Neifert, Stewart S; Karuppagounder, Senthilkumar S SS; Liu, Qinfang Q; Stankowski, Jeannette N JN; Lee, Byoung Dae BD; Ko, Han Seok HS; Lee, Yunjong Y; Grima, Jonathan C JC; Mao, Xiaobo X; Jiang, Haisong H; Kang, Sung-Ung SU; Swing, Deborah A DA; Iacovitti, Lorraine L; Tessarollo, Lino L; Dawson, Ted M TM; Dawson, Valina L VL
Publication Date: 2018-02-13

Variant appearance in text: LRRK2: D1994A
PubMed Link: 29386392
Variant Present in the following documents:
  • Main text
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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: D1994A
PubMed Link: 29177506
Variant Present in the following documents:
  • Main text
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Parkinson's Disease-Associated LRRK2 Hyperactive Kinase Mutant Disrupts Synaptic Vesicle Trafficking in Ventral Midbrain Neurons.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Pan, Ping-Yue PY; Li, Xianting X; Wang, Jing J; Powell, James J; Wang, Qian Q; Zhang, Yuanxi Y; Chen, Zhaoyu Z; Wicinski, Bridget B; Hof, Patrick P; Ryan, Timothy A TA; Yue, Zhenyu Z
Publication Date: 2017-11-22

Variant appearance in text: LRRK2: D1994A
PubMed Link: 29054882
Variant Present in the following documents:
  • Main text
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LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease.

Human Molecular Genetics
Howlett, Evan H EH; Jensen, Nicholas N; Belmonte, Frances F; Zafar, Faria F; Hu, Xiaoping X; Kluss, Jillian J; Schüle, Birgitt B; Kaufman, Brett A BA; Greenamyre, J T JT; Sanders, Laurie H LH
Publication Date: 2017-11-15

Variant appearance in text: LRRK2: D1994A
PubMed Link: 28973664
Variant Present in the following documents:
  • Main text
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Selective LRRK2 kinase inhibition reduces phosphorylation of endogenous Rab10 and Rab12 in human peripheral mononuclear blood cells.

Scientific Reports
Thirstrup, Kenneth K; Dächsel, Justus C JC; Oppermann, Felix S FS; Williamson, Douglas S DS; Smith, Garrick P GP; Fog, Karina K; Christensen, Kenneth V KV
Publication Date: 2017-08-31

Variant appearance in text: LRRK2: D1994A
PubMed Link: 28860483
Variant Present in the following documents:
  • Main text
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Role of LRRK2 in the regulation of dopamine receptor trafficking.

Plos One
Rassu, Mauro M; Del Giudice, Maria Grazia MG; Sanna, Simona S; Taymans, Jean Marc JM; Morari, Michele M; Brugnoli, Alberto A; Frassineti, Martina M; Masala, Alessandra A; Esposito, Sonia S; Galioto, Manuela M; Valle, Cristiana C; Carri, Maria Teresa MT; Biosa, Alice A; Greggio, Elisa E; Crosio, Claudia C; Iaccarino, Ciro C
Publication Date: 2017

Variant appearance in text: LRRK2: D1994A
PubMed Link: 28582422
Variant Present in the following documents:
  • Main text
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Leucine-Rich Repeat Kinase 2 (LRRK2) Stimulates IL-1β-Mediated Inflammatory Signaling through Phosphorylation of RCAN1.

Frontiers In Cellular Neuroscience
Han, Kyung A KA; Yoo, Lang L; Sung, Jee Y JY; Chung, Sun A SA; Um, Ji W JW; Kim, Hyeyoung H; Seol, Wongi W; Chung, Kwang C KC
Publication Date: 2017

Variant appearance in text: LRRK2: D1994A
PubMed Link: 28553204
Variant Present in the following documents:
  • Main text
  • fncel-11-00125.pdf
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Overexpression of Parkinson's Disease-Associated Mutation LRRK2 G2019S in Mouse Forebrain Induces Behavioral Deficits and α-Synuclein Pathology.

Eneuro
Xiong, Yulan Y; Neifert, Stewart S; Karuppagounder, Senthilkumar S SS; Stankowski, Jeannette N JN; Lee, Byoung Dae BD; Grima, Jonathan C JC; Chen, Guanxing G; Ko, Han Seok HS; Lee, Yunjong Y; Swing, Debbie D; Tessarollo, Lino L; Dawson, Ted M TM; Dawson, Valina L VL
Publication Date: 2017

Variant appearance in text: LRRK2: D1994A
PubMed Link: 28321439
Variant Present in the following documents:
  • Main text
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Mechanisms of LRRK2-dependent neurodegeneration: role of enzymatic activity and protein aggregation.

Biochemical Society Transactions
Islam, Md Shariful MS; Moore, Darren J DJ
Publication Date: 2017-02-08

Variant appearance in text: LRRK2: D1994A
PubMed Link: 28202670
Variant Present in the following documents:
  • Main text
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Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.

Molecular Neurodegeneration
Berwick, Daniel C DC; Javaheri, Behzad B; Wetzel, Andrea A; Hopkinson, Mark M; Nixon-Abell, Jonathon J; Grannò, Simone S; Pitsillides, Andrew A AA; Harvey, Kirsten K
Publication Date: 2017-01-19

Variant appearance in text: LRRK2: D1994A
PubMed Link: 28103901
Variant Present in the following documents:
  • Main text
  • 13024_2017_Article_153.pdf
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The dual enzyme LRRK2 hydrolyzes GTP in both its GTPase and kinase domains in vitro.

Biochimica Et Biophysica Acta. Proteins And Proteomics
Liu, Zhiyong Z; West, Andrew B AB
Publication Date: 2017-03

Variant appearance in text: LRRK2: D1994A
PubMed Link: 27939437
Variant Present in the following documents:
  • Main text
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Fbxl18 targets LRRK2 for proteasomal degradation and attenuates cell toxicity.

Neurobiology Of Disease
Ding, Xiaodong X; Barodia, Sandeep K SK; Ma, Lisha L; Goldberg, Matthew S MS
Publication Date: 2017-02

Variant appearance in text: LRRK2: D1994A
PubMed Link: 27890708
Variant Present in the following documents:
  • Main text
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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: D1994A
PubMed Link: 27832104
Variant Present in the following documents:
  • Main text
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Human R1441C LRRK2 regulates the synaptic vesicle proteome and phosphoproteome in a Drosophila model of Parkinson's disease.

Human Molecular Genetics
Islam, Md Shariful MS; Nolte, Hendrik H; Jacob, Wright W; Ziegler, Anna B AB; Pütz, Stefanie S; Grosjean, Yael Y; Szczepanowska, Karolina K; Trifunovic, Aleksandra A; Braun, Thomas T; Heumann, Hermann H; Heumann, Rolf R; Hovemann, Bernhard B; Moore, Darren J DJ; Krüger, Marcus M
Publication Date: 2016-12-15

Variant appearance in text: LRRK2: D1994A
PubMed Link: 27794539
Variant Present in the following documents:
  • Main text
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LRRK2 Inhibits FAK Activity by Promoting FERM-mediated Autoinhibition of FAK and Recruiting the Tyrosine Phosphatase, SHP-2.

Experimental Neurobiology
Choi, Insup I; Byun, Ji-Won JW; Park, Sang Myun SM; Jou, Ilo I; Joe, Eun-Hye EH
Publication Date: 2016-10

Variant appearance in text: LRRK2: D1994A
PubMed Link: 27790061
Variant Present in the following documents:
  • Main text
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Interplay between Leucine-Rich Repeat Kinase 2 (LRRK2) and p62/SQSTM-1 in Selective Autophagy.

Plos One
Park, Sangwook S; Han, Seulki S; Choi, Insup I; Kim, Beomsue B; Park, Seung Pyo SP; Joe, Eun-Hye EH; Suh, Young Ho YH
Publication Date: 2016

Variant appearance in text: LRRK2: D1994A
PubMed Link: 27631370
Variant Present in the following documents:
  • Main text
  • pone.0163029.pdf
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G2385R and I2020T Mutations Increase LRRK2 GTPase Activity.

Biomed Research International
Ho, Dong Hwan DH; Jang, Jihoon J; Joe, Eun-Hye EH; Son, Ilhong I; Seo, Hyemyung H; Seol, Wongi W
Publication Date: 2016

Variant appearance in text: LRRK2: D1994A
PubMed Link: 27314038
Variant Present in the following documents:
  • Main text
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Antioxidants inhibit neuronal toxicity in Parkinson's disease-linked LRRK2.

Annals Of Clinical And Translational Neurology
Angeles, Dario C DC; Ho, Patrick P; Dymock, Brian W BW; Lim, Kah-Leong KL; Zhou, Zhi-Dong ZD; Tan, Eng-King EK
Publication Date: 2016-04

Variant appearance in text: LRRK2: D1994A
PubMed Link: 27081659
Variant Present in the following documents:
  • Main text
  • ACN3-3-288.pdf
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Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.

Elife
Steger, Martin M; Tonelli, Francesca F; Ito, Genta G; Davies, Paul P; Trost, Matthias M; Vetter, Melanie M; Wachter, Stefanie S; Lorentzen, Esben E; Duddy, Graham G; Wilson, Stephen S; Baptista, Marco As MA; Fiske, Brian K BK; Fell, Matthew J MJ; Morrow, John A JA; Reith, Alastair D AD; Alessi, Dario R DR; Mann, Matthias M
Publication Date: 2016-01-29

Variant appearance in text: LRRK2: D1994A
PubMed Link: 26824392
Variant Present in the following documents:
  • Main text
  • elife-12813.pdf
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Leucine-Rich Repeat Kinase 2 (LRRK2) phosphorylates p53 and induces p21(WAF1/CIP1) expression.

Molecular Brain
Ho, Dong Hwan DH; Kim, Hyejung H; Kim, Jisun J; Sim, Hyuna H; Ahn, Hyunjun H; Kim, Janghwan J; Seo, Hyemyung H; Chung, Kwang Chul KC; Park, Bum-Joon BJ; Son, Ilhong I; Seol, Wongi W
Publication Date: 2015-09-18

Variant appearance in text: LRRK2: D1994A
PubMed Link: 26384650
Variant Present in the following documents:
  • Main text
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LRRK2 G2019S mutation attenuates microglial motility by inhibiting focal adhesion kinase.

Nature Communications
Choi, Insup I; Kim, Beomsue B; Byun, Ji-Won JW; Baik, Sung Hoon SH; Huh, Yun Hyun YH; Kim, Jong-Hyeon JH; Mook-Jung, Inhee I; Song, Woo Keun WK; Shin, Joo-Ho JH; Seo, Hyemyung H; Suh, Young Ho YH; Jou, Ilo I; Park, Sang Myun SM; Kang, Ho Chul HC; Joe, Eun-Hye EH
Publication Date: 2015-09-14

Variant appearance in text: LRRK2: D1994A
PubMed Link: 26365310
Variant Present in the following documents:
  • Main text
  • ncomms9255.pdf
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Threonine 56 phosphorylation of Bcl-2 is required for LRRK2 G2019S-induced mitochondrial depolarization and autophagy.

Biochimica Et Biophysica Acta
Su, Yu-Chin YC; Guo, Xing X; Qi, Xin X
Publication Date: 2015-01

Variant appearance in text: LRRK2: D1994A
PubMed Link: 25446991
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Unique functional and structural properties of the LRRK2 protein ATP-binding pocket.

The Journal Of Biological Chemistry
Liu, Zhiyong Z; Galemmo, Robert A RA; Fraser, Kyle B KB; Moehle, Mark S MS; Sen, Saurabh S; Volpicelli-Daley, Laura A LA; DeLucas, Lawrence J LJ; Ross, Larry J LJ; Valiyaveettil, Jacob J; Moukha-Chafiq, Omar O; Pathak, Ashish K AK; Ananthan, Subramaniam S; Kezar, Hollis H; White, E Lucile EL; Gupta, Vandana V; Maddry, Joseph A JA; Suto, Mark J MJ; West, Andrew B AB
Publication Date: 2014-11-21

Variant appearance in text: LRRK2: D1994A
PubMed Link: 25228699
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LRRK2 kinase activity and biology are not uniformly predicted by its autophosphorylation and cellular phosphorylation site status.

Frontiers In Molecular Neuroscience
Reynolds, April A; Doggett, Elizabeth A EA; Riddle, Steve M SM; Lebakken, Connie S CS; Nichols, R Jeremy RJ
Publication Date: 2014

Variant appearance in text: LRRK2: Asp1994Ala
PubMed Link: 25009464
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Lack of correlation between the kinase activity of LRRK2 harboring kinase-modifying mutations and its phosphorylation at Ser910, 935, and Ser955.

Plos One
Ito, Genta G; Fujimoto, Tetta T; Kamikawaji, Shogo S; Kuwahara, Tomoki T; Iwatsubo, Takeshi T
Publication Date: 2014

Variant appearance in text: LRRK2: D1994A
PubMed Link: 24836358
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