Analysis of rare Parkinson's disease variants in millions of people.
Research Square
Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C
Publication Date: 2023-04-10
Variant appearance in text: LRRK2: R1441H; rs34995376
Recent Advances in the Treatment of Genetic Forms of Parkinson's Disease: Hype or Hope?
Cells
Cavallieri, Francesco F; Cury, Rubens G RG; Guimarães, Thiago T; Fioravanti, Valentina V; Grisanti, Sara S; Rossi, Jessica J; Monfrini, Edoardo E; Zedde, Marialuisa M; Di Fonzo, Alessio A; Valzania, Franco F; Moro, Elena E
Defects of Nutrient Signaling and Autophagy in Neurodegeneration.
Frontiers In Cell And Developmental Biology
Ondaro, Jon J; Hernandez-Eguiazu, Haizea H; Garciandia-Arcelus, Maddi M; Loera-Valencia, Raúl R; Rodriguez-Gómez, Laura L; Jiménez-Zúñiga, Andrés A; Goikolea, Julen J; Rodriguez-Rodriguez, Patricia P; Ruiz-Martinez, Javier J; Moreno, Fermín F; Lopez de Munain, Adolfo A; Holt, Ian James IJ; Gil-Bea, Francisco Javier FJ; Gereñu, Gorka G
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
The Journal Of Cell Biology
Stormo, Adrienne E D AED; Shavarebi, Farbod F; FitzGibbon, Molly M; Earley, Elizabeth M EM; Ahrendt, Hannah H; Lum, Lotus S LS; Verschueren, Erik E; Swaney, Danielle L DL; Skibinski, Gaia G; Ravisankar, Abinaya A; van Haren, Jeffrey J; Davis, Emily J EJ; Johnson, Jeffrey R JR; Von Dollen, John J; Balen, Carson C; Porath, Jacob J; Crosio, Claudia C; Mirescu, Christian C; Iaccarino, Ciro C; Dauer, William T WT; Nichols, R Jeremy RJ; Wittmann, Torsten T; Cox, Timothy C TC; Finkbeiner, Steve S; Krogan, Nevan J NJ; Oakes, Scott A SA; Hiniker, Annie A
Markov State Models and Molecular Dynamics Simulations Provide Understanding of the Nucleotide-Dependent Dimerization-Based Activation of LRRK2 ROC Domain.
Molecular correlates of response to eribulin and pembrolizumab in hormone receptor-positive metastatic breast cancer.
Nature Communications
Keenan, Tanya E TE; Guerriero, Jennifer L JL; Barroso-Sousa, Romualdo R; Li, Tianyu T; O'Meara, Tess T; Giobbie-Hurder, Anita A; Tayob, Nabihah N; Hu, Jiani J; Severgnini, Mariano M; Agudo, Judith J; Vaz-Luis, Ines I; Anderson, Leilani L; Attaya, Victoria V; Park, Jihye J; Conway, Jake J; He, Meng Xiao MX; Reardon, Brendan B; Shannon, Erin E; Wulf, Gerburg G; Spring, Laura M LM; Jeselsohn, Rinath R; Krop, Ian I; Lin, Nancy U NU; Partridge, Ann A; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Liu, David D; Van Allen, Eliezer M EM; Tolaney, Sara M SM
Nivolumab in combination with cabozantinib for metastatic triple-negative breast cancer: a phase II and biomarker study.
Npj Breast Cancer
Barroso-Sousa, Romualdo R; Keenan, Tanya E TE; Li, Tianyu T; Tayob, Nabihah N; Trippa, Lorenzo L; Pastorello, Ricardo G RG; Richardson Iii, Edward T ET; Dillon, Deborah D; Amoozgar, Zohreh Z; Overmoyer, Beth B; Schnitt, Stuart J SJ; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Van Allen, Eliezer E; Duda, Dan G DG; Tolaney, Sara M SM
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.
Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16
Variant appearance in text: LRRK2: 4322G>A; Arg1441His; rs34995376
miR-335 Targets LRRK2 and Mitigates Inflammation in Parkinson's Disease.
Frontiers In Cell And Developmental Biology
Oliveira, Sara R SR; Dionísio, Pedro A PA; Gaspar, Maria M MM; Correia Guedes, Leonor L; Coelho, Miguel M; Rosa, Mário M MM; Ferreira, Joaquim J JJ; Amaral, Joana D JD; Rodrigues, Cecília M P CMP
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: 4322G>A; R1441H
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
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
Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease.
Aging
Yakhine-Diop, Sokhna M S SMS; Morales-García, José A JA; Niso-Santano, Mireia M; González-Polo, Rosa A RA; Uribe-Carretero, Elisabet E; Martinez-Chacon, Guadalupe G; Durand, Sylvere S; Maiuri, Maria Chiara MC; Aiastui, Ana A; Zulaica, Miren M; Ruíz-Martínez, Javier J; López de Munain, Adolfo A; Pérez-Tur, Jordi J; Pérez-Castillo, Ana A; Kroemer, Guido G; Bravo-San Pedro, José M JM; Fuentes, José M JM
From Synaptic Dysfunction to Neuroprotective Strategies in Genetic Parkinson's Disease: Lessons From LRRK2.
Frontiers In Cellular Neuroscience
Mancini, Andrea A; Mazzocchetti, Petra P; Sciaccaluga, Miriam M; Megaro, Alfredo A; Bellingacci, Laura L; Beccano-Kelly, Dayne A DA; Di Filippo, Massimiliano M; Tozzi, Alessandro A; Calabresi, Paolo P
Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson's Disease Progression.
Movement Disorders : Official Journal Of The Movement Disorder Society
Mollenhauer, Brit B; Dakna, Mohammed M; Kruse, Niels N; Galasko, Douglas D; Foroud, Tatiana T; Zetterberg, Henrik H; Schade, Sebastian S; Gera, Roland G RG; Wang, Wenting W; Gao, Feng F; Frasier, Mark M; Chahine, Lana M LM; Coffey, Christopher S CS; Singleton, Andrew B AB; Simuni, Tanya T; Weintraub, Daniel D; Seibyl, John J; Toga, Arthur W AW; Tanner, Caroline M CM; Kieburtz, Karl K; Marek, Kenneth K; Siderowf, Andrew A; Cedarbaum, Jesse M JM; Hutten, Samantha J SJ; Trenkwalder, Claudia C; Graham, Danielle D
Publication Date: 2020-11
Variant appearance in text: LRRK2: R1441H; rs34995376