Zobrazeno 1 - 10
of 50
pro vyhledávání: '"genetics [Protein Serine-Threonine Kinases]"'
Autor:
Pragya Pathak, Krista K. Alexander, Leah G. Helton, Michalis Kentros, Timothy J. LeClair, Xiaojuan Zhang, Franz Y. Ho, Timothy T. Moore, Scotty Hall, Giambattista Guaitoli, Christian Johannes Gloeckner, Arjan Kortholt, Hardy Rideout, Eileen J. Kennedy
Publikováno v:
ACS chemical neuroscience, 14(11):00259, 1971-1980. AMER CHEMICAL SOC
ACS chemical neuroscience 14(11), 1971-1980 (2023). doi:10.1021/acschemneuro.3c00259
ACS chemical neuroscience 14(11), 1971-1980 (2023). doi:10.1021/acschemneuro.3c00259
Missense mutations along the leucine-rich repeat kinase 2 (LRRK2) protein are a major contributor to Parkinson's Disease (PD), the second most commonly occurring neurodegenerative disorder worldwide. We recently reported the development of allosteric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc0614f15090c6912f4e8e56ac13db4
https://research.rug.nl/en/publications/8b0f169c-49a7-4d9a-a76d-669929bf4f40
https://research.rug.nl/en/publications/8b0f169c-49a7-4d9a-a76d-669929bf4f40
Autor:
Björn H. Schott, Gusalija Behnisch, Anni Richter, Marc Guitart-Masip, Lieke de Boer, Constanze I. Seidenbecher
Publikováno v:
Journal of neural transmission 128(11), 1705-1720 (2021). doi:10.1007/s00702-021-02382-4
Journal of Neural Transmission
Journal of neural transmission, 128(11):1705-1720
Journal of Neural Transmission
Journal of neural transmission, 128(11):1705-1720
Dopaminergic neurotransmission plays a pivotal role in appetitively motivated behavior in mammals, including humans. Notably, action and valence are not independent in motivated tasks, and it is particularly difficult for humans to learn the inhibiti
Autor:
Kevin Kirchner, Linda Garvert, Katharina Wittfeld, Sabine Ameling, Robin Bülow, Henriette Meyer zu Schwabedissen, Matthias Nauck, Henry Völzke, Hans J. Grabe, Sandra Van der Auwera
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 1120
International journal of molecular sciences 24(2), 1120 (2023). doi:10.3390/ijms24021120
International journal of molecular sciences 24(2), 1120 (2023). doi:10.3390/ijms24021120
The aim of this study was to disentangle the effects of various genetic factors on hippocampal subfield volumes using three different approaches: a biologically driven candidate gene approach, a hypothesis-free GWAS approach, and a polygenic approach
Autor:
Jean-Marc Gallo, Dieter Edbauer
Publikováno v:
Science / Science now 378(6615), 28-29 (2022). doi:10.1126/science.ade4210
Science
Science
Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 (TBK1) gene. We found that TBK1 is phosphorylated in response to C9orf72 po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63e08f3103aef61de857a05ac4e632c
Autor:
Han Han, Hiroki J. Nakaoka, Line Hofmann, Jeff Jiajing Zhou, Clinton Yu, Lisha Zeng, Junyu Nan, Gayoung Seo, Rebecca Elizabeth Vargas, Bing Yang, Ruxi Qi, Lee Bardwell, Dmitry A. Fishman, Ken W. Y. Cho, Lan Huang, Ray Luo, Rahul Warrior, Wenqi Wang
Publikováno v:
Nat Cell Biol
Nature cell biology, vol 24, iss 1
Nature cell biology, vol 24, iss 1
Heavy metals are both integral parts of cells and environmental toxicants, and their deregulation is associated with severe cellular dysfunction and various diseases. Here we show that the Hippo pathway plays a critical role in regulating heavy metal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc72fa5595c58c2af5bb74b636342fb0
https://europepmc.org/articles/PMC9022944/
https://europepmc.org/articles/PMC9022944/
Autor:
Rainer Malik, Kristiina Rannikmäe, Matthew Traylor, Stéphanie Debette, Cathie Sudlow, Muralidharan Sargurupremraj, Marios K. Georgakis, Hugh S. Markus, Jemma C. Hopewell, Martin Dichgans
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2018, 84 (6), pp.934-939. ⟨10.1002/ana.25369⟩
Annals of neurology 84(6), 934-939 (2018). doi:10.1002/ana.25369
Annals of Neurology, Wiley, 2018, 84 (6), pp.934-939. ⟨10.1002/ana.25369⟩
Annals of neurology 84(6), 934-939 (2018). doi:10.1002/ana.25369
We conducted a European-only and transancestral genome-wide association meta-analysis in 72,147 stroke patients and 823,869 controls using data from UK Biobank (UKB) and the MEGASTROKE consortium. We identified an exonic polymorphism in NOS3 (rs17999
Autor:
W. Samantha N. Jayasekara, Cynthia Louis, Hassan Albargy, Kevin Luu, Katherine A. Fitzgerald, Francis J. Kirby, Finbar Mansell, Jesse J. Balic, Daniel J. Garama, Eicke Latz, Fiachra Humphries, Ashley Mansell, Nikola Baschuk, Daniel J. Gough, Dominic De Nardo
Publikováno v:
Nature Communications 11(1), 3816 (2020). doi:10.1038/s41467-020-17669-5
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Detection of microbial components such as lipopolysaccharide (LPS) by Toll-like receptor (TLR)-4 expressed on macrophages induces a robust pro-inflammatory response which has recently been shown to be dependent on metabolic reprogramming 1, 2, 3, 4.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0d96f36776d72d1c4575633c91b3361
Autor:
Michel Panisset, Günther Deuschl, Patrick A. Dion, Lukas Tittmann, Mark Hallett, Claudia M. Testa, Simon Girard, Zbigniew K. Wszolek, Karin Srulijes, Klaus Seppi, Susanne A. Schneider, Gregor Kuhlenbäumer, Nancy D. Merner, Juliane Winkelmann, Wolfgang Lieb, Manuela Pendziwiat, Dietrich Haubenberger, Oswaldo Lorenzo-Betancor, Franziska Hopfner, Ronald B. Postuma, Kirsten E. Zeuner, Geneviève Bernard, Sylvain Chouinard, Guy A. Rouleau, Elan D. Louis, Owen A. Ross, Eva Reischl, Thomas Arzberger, Daniela Berg, Stefanie H. Müller, Sara Ortega-Cubero, Cynthia V. Bourassa, Joshua M. Shulman, Ali H. Rajput, Alexandra I. Soto-Ortolaza, Stephan Klebe, Nicolas Dupré, Isabel Wurster, Pau Pastor, Anna Hussl, Konstantin Strauch, Karl-Heinz Ladwig, Colin A. Hodgkinson, Joseph Jankovic, Delia Lorenz, Werner Poewe, Lorraine N. Clark, Alex Rajput, Carles Vilariño-Güell
Publikováno v:
Brain 139, 3163-3169 (2016)
Brain 139(12), 3163-3169 (2016). doi:10.1093/brain/aww242
Brain 139(12), 3163-3169 (2016). doi:10.1093/brain/aww242
We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor
Autor:
Müller, Kathrin, Brenner, David, Kubisch, Christian, Klopstock, Thomas, Zeller, Daniel, Jablonka, Sibylle, Sendtner, Michael, Klebe, Stephan, Knehr, Antje, Günther, Kornelia, Weis, Joachim, Claeys, Kristl G, Weydt, Patrick, Schrank, Berthold, Sperfeld, Anne-Dorte, Hübers, Annemarie, Otto, Markus, Dorst, Johannes, Meitinger, Thomas, Strom, Tim M, Andersen, Peter M, Ludolph, Albert, Weishaupt, Jochen H, Meyer, Thomas, MND-NET, German ALS network, Weyen, Ute, Hermann, Andreas, Regensburger, Martin, Winkler, Jürgen, Linker, Ralf, Winner, Beate, Hagenacker, Tim, Koch, Jan Christoph, Lingor, Paul, Grehl, Torsten, Göricke, Bettina, Zierz, Stephan, Jordan, Berit, Baum, Petra, Wolf, Joachim, Winkler, Andrea, Young, Peter, Bogdahn, Ulrich, Prudlo, Johannes, Kassubek, Jan, Petri, Susanne, Danzer, Karin M, Grosskreutz, Julian, Schuster, Joachim, Volk, Alexander E, Borck, Guntram
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry 89(8), 817-827 (2018). doi:10.1136/jnnp-2017-317611
Journal of Neurology, Neurosurgery, and Psychiatry
J. Neurol. Neurosurg. Psychiatr. 89, 817-827 (2018)
Journal of Neurology, Neurosurgery, and Psychiatry
J. Neurol. Neurosurg. Psychiatr. 89, 817-827 (2018)
ObjectivesRecent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbb9591c55245bd90ac99345f5b547b
https://pub.dzne.de/record/140154
https://pub.dzne.de/record/140154
Autor:
Peter De Jonghe, Rebecca Schüle, Stephan Züchner, Matthis Synofzik, Jonathan Baets, Tine Deconinck, Carlo Wilke, Jan De Bleecker, Saskia Biskup, Stefanie N. Hayer
Publikováno v:
Neurobiology of aging
Neurobiology of aging 62, 244.e9-244.e13 (2018). doi:10.1016/j.neurobiolaging.2017.10.010
Neurobiology of aging 62, 244.e9-244.e13 (2018). doi:10.1016/j.neurobiolaging.2017.10.010
Mutations in the TANK-binding kinase 1 gene (TBK1) are a rare, but recurrent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the complete phenotypic spectrum of syndromes associated with TBK1 mutations remains