LRRK2 c.4309A>C ;(p.N1437H)

Variant ID: 12-40703027-A-C

NM_198578.3(LRRK2):c.4309A>C;(p.N1437H)

This variant was identified in 153 publications

View GRCh38 version.




Publications:


Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules
Ito, Genta G; Utsunomiya-Tate, Naoko N
Publication Date: 2023-05-16

Variant appearance in text: LRRK2: N1437H
PubMed Link: 37238714
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00845.pdf
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Immunological Features of LRRK2 Function and Its Role in the Gut-Brain Axis Governing Parkinson's Disease.

Journal Of Parkinson'S Disease
Peter, Inga I; Strober, Warren W
Publication Date: 2023-04-10

Variant appearance in text: LRRK2: N1437H
PubMed Link: 37066923
Variant Present in the following documents:
  • Main text
  • jpd-13-jpd230021.pdf
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LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06

Variant appearance in text: LRRK2: N1437H
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
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Insights into the cellular consequences of LRRK2-mediated Rab protein phosphorylation.

Biochemical Society Transactions
Fasiczka, Rachel R; Naaldijk, Yahaira Y; Brahmia, Besma B; Hilfiker, Sabine S
Publication Date: 2023-03-17

Variant appearance in text: LRRK2: N1437H
PubMed Link: 36929701
Variant Present in the following documents:
  • Main text
  • BST-51-587.pdf
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Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson's Disease.

Cells
Corral Nieto, Yaiza Y; Yakhine-Diop, Sokhna M S SMS; Moreno-Cruz, Paula P; Manrique García, Laura L; Gabrielly Pereira, Amanda A; Morales-García, José A JA; Niso-Santano, Mireia M; González-Polo, Rosa A RA; Uribe-Carretero, Elisabet E; Durand, Sylvère S; Maiuri, Maria Chiara MC; Paredes-Barquero, Marta M; Alegre-Cortés, Eva E; Canales-Cortés, Saray S; López de Munain, Adolfo A; Pérez-Tur, Jordi J; Pérez-Castillo, Ana A; Kroemer, Guido G; Fuentes, José M JM; Bravo-San Pedro, José M JM
Publication Date: 2023-03-04

Variant appearance in text: PARK8: N1437H
PubMed Link: 36899942
Variant Present in the following documents:
  • Main text
  • cells-12-00806.pdf
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The function of Golgi apparatus in LRRK2-associated Parkinson's disease.

Frontiers In Molecular Neuroscience
Wei, Yonghang Y; Awan, Maher Un Nisa MUN; Bai, Liping L; Bai, Jie J
Publication Date: 2023

Variant appearance in text: LRRK2: N1437H
PubMed Link: 36896008
Variant Present in the following documents:
  • Main text
  • fnmol-16-1097633.pdf
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Pathogenesis of α-Synuclein in Parkinson's Disease: From a Neuron-Glia Crosstalk Perspective.

International Journal Of Molecular Sciences
Yi, Shuanglong S; Wang, Linfang L; Wang, Honglei H; Ho, Margaret S MS; Zhang, Shiping S
Publication Date: 2022-11-25

Variant appearance in text: LRRK2: N1437H
PubMed Link: 36499080
Variant Present in the following documents:
  • Main text
  • ijms-23-14753.pdf
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Development of mutation-selective LRRK2 kinase inhibitors as precision medicine for Parkinson's disease and other diseases for which carriers are at increased risk.

Frontiers In Neurology
Lesniak, Robert K RK; Nichols, R Jeremy RJ; Montine, Thomas J TJ
Publication Date: 2022

Variant appearance in text: LRRK2: N1437H
PubMed Link: 36388213
Variant Present in the following documents:
  • Main text
  • fneur-13-1016040.pdf
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Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Genes
Kim, Jeffrey J; Daadi, Etienne W EW; Oh, Thomas T; Daadi, Elyas S ES; Daadi, Marcel M MM
Publication Date: 2022-10-25

Variant appearance in text: LRRK2: N1437H
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
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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: N1437H
PubMed Link: 36291241
Variant Present in the following documents:
  • Main text
  • brainsci-12-01308.pdf
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Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Genes
Thakur, Gunjan G; Kumar, Vikas V; Lee, Keun Woo KW; Won, Chungkil C
Publication Date: 2022-08-11

Variant appearance in text: LRRK2: N1437H
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
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Effect Modification between Genes and Environment and Parkinson's Disease Risk.

Annals Of Neurology
Periñán, Maria Teresa MT; Brolin, Kajsa K; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Klein, Christine C; Gan-Or, Ziv Z; Singleton, Andrew A; Gomez-Garre, Pilar P; Swanberg, Maria M; Mir, Pablo P; Noyce, Alastair A
Publication Date: 2022-11

Variant appearance in text: LRRK2: Asn1437His
PubMed Link: 35913124
Variant Present in the following documents:
  • Main text
  • ANA-92-715.pdf
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The emerging role of LRRK2 in tauopathies.

Clinical Science (London, England : 1979)
Herbst, Susanne S; Lewis, Patrick A PA; Morris, Huw R HR
Publication Date: 2022-07-15

Variant appearance in text: PARK8: N1437H
PubMed Link: 35815712
Variant Present in the following documents:
  • Main text
  • cs-136-cs20220067.pdf
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Mitochondrial Dysfunction in Parkinson's Disease: From Mechanistic Insights to Therapy.

Frontiers In Aging Neuroscience
Gao, Xiao-Yan XY; Yang, Tuo T; Gu, Ying Y; Sun, Xiao-Hong XH
Publication Date: 2022

Variant appearance in text: LRRK2: N1437H
PubMed Link: 35795234
Variant Present in the following documents:
  • Main text
  • fnagi-14-885500.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: N1437H
PubMed Link: 35776681
Variant Present in the following documents:
  • Main text
  • biolopen-11-059468.pdf
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LRRK2 and Proteostasis in Parkinson's Disease.

International Journal Of Molecular Sciences
Pérez-Carrión, María Dolores MD; Posadas, Inmaculada I; Solera, Javier J; Ceña, Valentín V
Publication Date: 2022-06-18

Variant appearance in text: LRRK2: N1437H
PubMed Link: 35743250
Variant Present in the following documents:
  • Main text
  • ijms-23-06808.pdf
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A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Journal Of Parkinson'S Disease
Salles, Philippe A PA; Liao, James J; Shuaib, Umar U; Mata, Ignacio F IF; Fernandez, Hubert H HH
Publication Date: 2022

Variant appearance in text: LRRK2: N1437H
PubMed Link: 35662127
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd212986.pdf
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Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Genes
Jia, Fangzhi F; Fellner, Avi A; Kumar, Kishore Raj KR
Publication Date: 2022-03-07

Variant appearance in text: LRRK2: N1437H
PubMed Link: 35328025
Variant Present in the following documents:
  • Main text
  • genes-13-00471.pdf
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LRRK2 dynamics analysis identifies allosteric control of the crosstalk between its catalytic domains.

Plos Biology
Weng, Jui-Hung JH; Aoto, Phillip C PC; Lorenz, Robin R; Wu, Jian J; Schmidt, Sven H SH; Manschwetus, Jascha T JT; Kaila-Sharma, Pallavi P; Silletti, Steve S; Mathea, Sebastian S; Chatterjee, Deep D; Knapp, Stefan S; Herberg, Friedrich W FW; Taylor, Susan S SS
Publication Date: 2022-02

Variant appearance in text: LRRK2: N1437H
PubMed Link: 35192607
Variant Present in the following documents:
  • Main text
  • pbio.3001427.pdf
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LRRK2 mutant knock-in mouse models: therapeutic relevance in Parkinson's disease.

Translational Neurodegeneration
Chang, Eunice Eun Seo EES; Ho, Philip Wing-Lok PW; Liu, Hui-Fang HF; Pang, Shirley Yin-Yu SY; Leung, Chi-Ting CT; Malki, Yasine Y; Choi, Zoe Yuen-Kiu ZY; Ramsden, David Boyer DB; Ho, Shu-Leong SL
Publication Date: 2022-02-14

Variant appearance in text: LRRK2: N1437H
PubMed Link: 35152914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cognitive Impairment in Genetic Parkinson's Disease.

Parkinson'S Disease
Planas-Ballvé, A A; Vilas, D D
Publication Date: 2021

Variant appearance in text: LRRK2: N1437H
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
  • PD2021-8610285.pdf
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Pharmacological Modulation of Nrf2/HO-1 Signaling Pathway as a Therapeutic Target of Parkinson's Disease.

Frontiers In Pharmacology
Wang, Yumin Y; Gao, Luyan L; Chen, Jichao J; Li, Qiang Q; Huo, Liang L; Wang, Yanchao Y; Wang, Hongquan H; Du, Jichen J
Publication Date: 2021

Variant appearance in text: LRRK2: N1437H
PubMed Link: 34887759
Variant Present in the following documents:
  • Main text
  • fphar-12-757161.pdf
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The Regulation of Rab GTPases by Phosphorylation.

Biomolecules
Xu, Lejia L; Nagai, Yuki Y; Kajihara, Yotaro Y; Ito, Genta G; Tomita, Taisuke T
Publication Date: 2021-09-10

Variant appearance in text: LRRK2: N1437H
PubMed Link: 34572553
Variant Present in the following documents:
  • Main text
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A Conserved Role for LRRK2 and Roco Proteins in the Regulation of Mitochondrial Activity.

Frontiers In Cell And Developmental Biology
Rosenbusch, Katharina E KE; Oun, Asmaa A; Sanislav, Oana O; Lay, Sui T ST; Keizer-Gunnink, Ineke I; Annesley, Sarah J SJ; Fisher, Paul R PR; Dolga, Amalia M AM; Kortholt, Arjan A
Publication Date: 2021

Variant appearance in text: LRRK2: Asn1437His
PubMed Link: 34568343
Variant Present in the following documents:
  • fcell-09-734554.pdf
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Pathways to Parkinson's disease: a spotlight on 14-3-3 proteins.

Npj Parkinson'S Disease
Giusto, E E; Yacoubian, T A TA; Greggio, E E; Civiero, L L
Publication Date: 2021-09-21

Variant appearance in text: LRRK2: N1437H
PubMed Link: 34548498
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of Type II LRRK2 inhibitors on signaling and mitophagy.

The Biochemical Journal
Tasegian, Anna A; Singh, Francois F; Ganley, Ian G IG; Reith, Alastair D AD; Alessi, Dario R DR
Publication Date: 2021-10-15

Variant appearance in text: LRRK2: N1437H
PubMed Link: 34515301
Variant Present in the following documents:
  • Main text
View BVdb publication page



LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.

Frontiers In Neurology
Usnich, Tatiana T; Vollstedt, Eva-Juliane EJ; Schell, Nathalie N; Skrahina, Volha V; Bogdanovic, Xenia X; Gaber, Hanaa H; Förster, Toni M TM; Heuer, Andreas A; Koleva-Alazeh, Natalia N; Csoti, Ilona I; Basak, Ayse Nazli AN; Ertan, Sibel S; Genc, Gencer G; Bauer, Peter P; Lohmann, Katja K; Grünewald, Anne A; Schymanski, Emma L EL; Trinh, Joanne J; Schaake, Susen S; Berg, Daniela D; Gruber, Doreen D; Isaacson, Stuart H SH; Kühn, Andrea A AA; Mollenhauer, Brit B; Pedrosa, David J DJ; Reetz, Kathrin K; Sammler, Esther M EM; Valente, Enza Maria EM; Valzania, Franco F; Volkmann, Jens J; Zittel, Simone S; Brüggemann, Norbert N; Kasten, Meike M; Rolfs, Arndt A; Klein, Christine C; ,
Publication Date: 2021

Variant appearance in text: LRRK2: 4309A>C; Asn1437His
PubMed Link: 34475849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nanomedicine for Neurodegenerative Disorders: Focus on Alzheimer's and Parkinson's Diseases.

International Journal Of Molecular Sciences
Jagaran, Keelan K; Singh, Moganavelli M
Publication Date: 2021-08-23

Variant appearance in text: LRRK2: Asn1437His
PubMed Link: 34445784
Variant Present in the following documents:
  • Main text
  • ijms-22-09082.pdf
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Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models.

Frontiers In Neurology
Abe, Tetsuro T; Kuwahara, Tomoki T
Publication Date: 2021

Variant appearance in text: LRRK2: N1437H
PubMed Link: 34194386
Variant Present in the following documents:
  • Main text
  • fneur-12-681369.pdf
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R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils.

Acta Neuropathologica
Fan, Ying Y; Nirujogi, Raja S RS; Garrido, Alicia A; Ruiz-Martínez, Javier J; Bergareche-Yarza, Alberto A; Mondragón-Rezola, Elisabet E; Vinagre-Aragón, Ana A; Croitoru, Ioana I; Gorostidi Pagola, Ana A; Paternain Markinez, Laura L; Alcalay, Roy R; Hickman, Richard A RA; Düring, Jonas J; Gomes, Sara S; Pratuseviciute, Neringa N; Padmanabhan, Shalini S; Valldeoriola, Francesc F; Pérez Sisqués, Leticia L; Malagelada, Cristina C; Ximelis, Teresa T; Molina Porcel, Laura L; Martí, Maria José MJ; Tolosa, Eduardo E; Alessi, Dario R DR; Sammler, Esther M EM
Publication Date: 2021-09

Variant appearance in text: LRRK2: N1437H
PubMed Link: 34125248
Variant Present in the following documents:
  • Main text
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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: N1437H
PubMed Link: 34087985
Variant Present in the following documents:
  • Main text
  • nihms-1717181.pdf
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The Contribution of Microglia to Neuroinflammation in Parkinson's Disease.

International Journal Of Molecular Sciences
Badanjak, Katja K; Fixemer, Sonja S; Smajić, Semra S; Skupin, Alexander A; Grünewald, Anne A
Publication Date: 2021-04-28

Variant appearance in text: LRRK2: N1437H
PubMed Link: 33925154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: N1437H
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalized Clinical Phenotyping through Systems Medicine and Artificial Intelligence.

Journal Of Personalized Medicine
Cesario, Alfredo A; D'Oria, Marika M; Bove, Francesco F; Privitera, Giuseppe G; Boškoski, Ivo I; Pedicino, Daniela D; Boldrini, Luca L; Erra, Carmen C; Loreti, Claudia C; Liuzzo, Giovanna G; Crea, Filippo F; Armuzzi, Alessandro A; Gasbarrini, Antonio A; Calabresi, Paolo P; Padua, Luca L; Costamagna, Guido G; Antonelli, Massimo M; Valentini, Vincenzo V; Auffray, Charles C; Scambia, Giovanni G
Publication Date: 2021-04-02

Variant appearance in text: LRRK2: N1437H
PubMed Link: 33918214
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2 at the Crossroad of Aging and Parkinson's Disease.

Genes
Hur, Eun-Mi EM; Lee, Byoung Dae BD
Publication Date: 2021-03-29

Variant appearance in text: LRRK2: N1437H
PubMed Link: 33805527
Variant Present in the following documents:
  • Main text
View BVdb publication page



A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene.

Frontiers In Neurology
Vinagre-Aragón, Ana A; Campo-Caballero, David D; Mondragón-Rezola, Elisabet E; Pardina-Vilella, Lara L; Hernandez Eguiazu, Haizea H; Gorostidi, Ana A; Croitoru, Ioana I; Bergareche, Alberto A; Ruiz-Martinez, Javier J
Publication Date: 2021

Variant appearance in text: LRRK2: N1437H
PubMed Link: 33763016
Variant Present in the following documents:
  • Main text
  • fneur-12-635396.pdf
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Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Npj Parkinson'S Disease
Herrick, Mary K MK; Tansey, Malú G MG
Publication Date: 2021-03-09

Variant appearance in text: LRRK2: N1437H
PubMed Link: 33750819
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_170.pdf
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Parkinson's Disease-Associated LRRK2 Interferes with Astrocyte-Mediated Alpha-Synuclein Clearance.

Molecular Neurobiology
Streubel-Gallasch, Linn L; Giusti, Veronica V; Sandre, Michele M; Tessari, Isabella I; Plotegher, Nicoletta N; Giusto, Elena E; Masato, Anna A; Iovino, Ludovica L; Battisti, Ilaria I; Arrigoni, Giorgio G; Shimshek, Derya D; Greggio, Elisa E; Tremblay, Marie-Eve ME; Bubacco, Luigi L; Erlandsson, Anna A; Civiero, Laura L
Publication Date: 2021-07

Variant appearance in text: LRRK2: N1437H
PubMed Link: 33629273
Variant Present in the following documents:
  • Main text
View BVdb publication page