Zobrazeno 1 - 10
of 23
pro vyhledávání: '"metabolism [Adaptor Proteins, Signal Transducing]"'
Autor:
Tomasz Próchnicki, Matilde B. Vasconcelos, Kim S. Robinson, Matthew S. J. Mangan, Dennis De Graaf, Kateryna Shkarina, Marta Lovotti, Lena Standke, Romina Kaiser, Rainer Stahl, Fraser G. Duthie, Maximilian Rothe, Kateryna Antonova, Lea-Marie Jenster, Zhi Heng Lau, Sarah Rösing, Nora Mirza, Clarissa Gottschild, Dagmar Wachten, Claudia Günther, Thomas A. Kufer, Florian I. Schmidt, Franklin L. Zhong, Eicke Latz
Publikováno v:
Nature immunology 24(4), 595-603 (2023). doi:10.1038/s41590-023-01451-y
Upon detecting pathogens or cell stress, several NOD-like receptors (NLRs) form inflammasome complexes with the adapter ASC and caspase-1, inducing gasdermin D (GSDMD)-dependent cell death and maturation and release of IL-1β and IL-18. The triggers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951cef744dde927be85ce561d1cb4398
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
Scientific reports 10(1), 5709 (2020). doi:10.1038/s41598-020-62207-4
Scientific Reports
Scientific reports 10(1), 5709 (2020). doi:10.1038/s41598-020-62207-4
Scientific Reports
Scaffold proteins are responsible for structural organisation within cells; they form complexes with other proteins to facilitate signalling pathways and catalytic reactions. The scaffold protein connector enhancer of kinase suppressor of Ras 2 (CNK2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d4bab047e0796955697bcb349d1e43
http://link.springer.com/article/10.1038/s41598-020-62207-4
http://link.springer.com/article/10.1038/s41598-020-62207-4
Autor:
Laura Strohm, Zehan Hu, Yongwon Suk, Alina Rühmkorf, Erin Sternburg, Vanessa Gattringer, Henrick Riemenschneider, Riccardo Berutti, Elisabeth Graf, Jochen H Weishaupt, Monika S Brill, Angelika B Harbauer, Dorothee Dormann, Jörn Dengjel, Dieter Edbauer, Christian Behrends
Publikováno v:
Life science alliance 5(11), e202101327 (2022). doi:10.26508/lsa.202101327
Ubiquilin-2 (UBQLN2) is a ubiquitin-binding protein that shuttles ubiquitinated proteins to proteasomal and autophagic degradation. UBQLN2 mutations are genetically linked to the neurodegenerative disorders amyotrophic lateral sclerosis and frontotem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999c052f873cd378aead73b0b3b1e8b6
https://doi.org/10.26508/lsa.202101327
https://doi.org/10.26508/lsa.202101327
Autor:
Audrey Ker Shin Soo, Sanna Puusepp, Niccolo E. Mencacci, Burcu Atasu, Joaquin Campos, Jinye Dai, Nicholas W. Wood, Javier Simón-Sánchez, Alan M. Pittman, Manju A Kurian, Ebba Lohmann, Katrin Õunap, Thomas Gasser, Dimitri Krainc, Liis Kadastik-Eerme, Karit Reinson, Thomas T. Warner, Arianna Tucci, Thomas C. Südhof, Bettina Balint, Christopher Patzke, Michael Schwake, Reet Rein, Apostolos Papandreou, Paulina Gonzalez-Latapi, Sarah Wiethoff, Claudio Acuna, Gemma L. Carvill, Sander Pajusalu, Hasmet Hanagasi, Christian Rosenmund, Tiiu Tomberg, Kailash P. Bhatia, Marisa M Brockmann, Gabriela Pino
Publikováno v:
J Clin Invest
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants in TSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dc0b4caef2c95228d03142342a2635d
https://pubmed.ncbi.nlm.nih.gov/33539324
https://pubmed.ncbi.nlm.nih.gov/33539324
Publikováno v:
The EMBO journal 39(20), e104247 (2020). doi:10.15252/embj.2019104247
The EMBO Journal
The EMBO Journal
Sequence variants of the microglial expressed TREM2 (triggering receptor expressed on myeloid cells 2) are a major risk factor for late onset Alzheimer's disease. TREM2 requires a stable interaction with DAP12 in the membrane to initiate signaling, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336001d0982d8a4fa0349c4e2f1ac011
Autor:
Vanessa Hertlein, Julia C. Fitzgerald, Ana J. García-Sáez, Katharina Hipp, María Calleja-Felipe, Hector Flores-Romero, Shira Knafo, Sebastian Fischer, Klaus Harter, Kushal Kumar Das, Michael Heunemann
Publikováno v:
Life science alliance 3(1), e201900600 (2019). doi:10.26508/lsa.201900600
Addi. Archivo Digital para la Docencia y la Investigación
instname
Life Science Alliance
Universidad de Cantabria (UC)
Addi. Archivo Digital para la Docencia y la Investigación
instname
Life Science Alliance
Universidad de Cantabria (UC)
MERLIN is a novel biosensor that generates a BRET signal with a signal-to-noise ratio that is sufficient to enable sensing the proximity between the mitochondria and the ER without forcing interaction or establishing artificial connections at the MER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d7b466e503d29e6a9c3a150c3331a80
Autor:
Juan A. Godoy, Craig C. Garner, Viviana I. Torres, Eckart D. Gundelfinger, Carolina Montenegro-Venegas, Pedro Zamorano, Duxan Arancibia, Nibaldo C. Inestrosa, Matias Lira, Yocelin Cruz, Daniela P Barrera
Publikováno v:
Cells
Volume 8
Issue 11
Cells, Vol 8, Iss 11, p 1333 (2019)
Cells, 8(11):1333
Cells 8(11), 1333 (2019). doi:10.3390/cells8111333
Volume 8
Issue 11
Cells, Vol 8, Iss 11, p 1333 (2019)
Cells, 8(11):1333
Cells 8(11), 1333 (2019). doi:10.3390/cells8111333
Neurons release neurotransmitters at a specialized region of the presynaptic membrane, the active zone (AZ), where a complex meshwork of proteins organizes the release apparatus. The formation of this proteinaceous cytomatrix at the AZ (CAZ) depends
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ab75b761b018db74c68172083dfe656
Autor:
Schludi, Martin H., May, Stephanie, Grässer, Friedrich A., Rentzsch, Kristin, Kremmer, Elisabeth, Küpper, Clemens, Klopstock, Thomas, German Consortium for Frontotemporal Lobar Degeneration, Bavarian Brain Banking Alliance, Arzberger, Thomas, Edbauer, Dieter, Danek, Adrian, Diehl-Schmid, Janine, Fassbender, Klaus, Hans Förstl, Kornhuber, Johannes, Otto, Markus, Ceballos-Baumann, Andres, Dieterich, Marianne, Feuerecker, Regina, Giese, Armin, Klünemann, Hans, Kurz, Alexander, Levin, Johannes, Lorenzl, Stefan, Meyer, Thomas, Nübling, Georg, Roeber, Sigrun
Publikováno v:
Acta Neuropathol. 130, 537-555 (2015)
Acta neuropathologica 130(4), 537-555 (2015). doi:10.1007/s00401-015-1450-z
Acta Neuropathologica
BASE-Bielefeld Academic Search Engine
Acta neuropathologica 130(4), 537-555 (2015). doi:10.1007/s00401-015-1450-z
Acta Neuropathologica
BASE-Bielefeld Academic Search Engine
A massive expansion of a GGGGCC repeat upstream of the C9orf72 coding region is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. Despite its intronic localization and lack of a canonical start codon, both stra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc1ea009ee0237f308e769b88fa1536e
https://doi.org/10.1007/s00401-015-1450-z
https://doi.org/10.1007/s00401-015-1450-z
Autor:
Ashutosh Dhingra, Joana R. Loureiro, Patrizia Rizzu, Vítor Tedim Cruz, Angela Timóteo, Claudia L. Oliveira, Guy A. Rouleau, Jorge Sequeiros, Andrés Ordóñez-Ugalde, José Bessa, Beatriz Quintáns, María Jesús Sobrido, Cristina Costa, Hugo Marcelino, Ana I. Seixas, Eva Brandão, Angel Carracedo, Paula Coutinho, Peter Heutink, Isabel Silveira, José Leal Loureiro
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
The American journal of human genetics 101(1), 87-103 (2017). doi:10.1016/j.ajhg.2017.06.007
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
The American journal of human genetics 101(1), 87-103 (2017). doi:10.1016/j.ajhg.2017.06.007
Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b3a79cc3c6bc2ea787f44e6f72164a
https://pubmed.ncbi.nlm.nih.gov/28686858
https://pubmed.ncbi.nlm.nih.gov/28686858
Autor:
Dominik Piston, Lydia Alvarez-Erviti, Vikas Bansal, Daniela Gargano, Zhi Yao, Gyorgy Szabadkai, Mark Odell, M Rhyan Puno, Benny Björkblom, Jodi Maple-Grødem, Peter Breuer, Oliver Kaut, Jan Petter Larsen, Stefan Bonn, Simon Geir Møller, Ullrich Wüllner, Anthony H V Schapira, Matthew E Gegg
Publikováno v:
Human molecular genetics 26(20), 4028-4041 (2017). doi:10.1093/hmg/ddx294
Human Molecular Genetics
Human Molecular Genetics
DJ-1 is an oxidation sensitive protein encoded by the PARK7 gene. Mutations in PARK7 are a rare cause of familial recessive Parkinson's disease (PD), but growing evidence suggests involvement of DJ-1 in idiopathic PD. The key clinical features of PD,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::589ee14d3b19c486a0ae29a58189184b
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-140877
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-140877