Academic literature on the topic 'BEACH-domain containing protein'
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Journal articles on the topic "BEACH-domain containing protein":
Liu, Xuezhao, Yang Li, Xin Wang, Ruxiao Xing, Kai Liu, Qiwen Gan, Changyong Tang, et al. "The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy." Journal of Cell Biology 216, no. 5 (April 12, 2017): 1301–20. http://dx.doi.org/10.1083/jcb.201608039.
Theisen, Derek J., Jesse T. Davidson, Carlos G. Briseño, Marco Gargaro, Elvin J. Lauron, Qiuling Wang, Pritesh Desai, et al. "WDFY4 is required for cross-presentation in response to viral and tumor antigens." Science 362, no. 6415 (November 8, 2018): 694–99. http://dx.doi.org/10.1126/science.aat5030.
Aarts, Cathelijn E. M., Kate Downes, Arie J. Hoogendijk, Evelien G. G. Sprenkeler, Roel P. Gazendam, Rémi Favier, Marie Favier, et al. "Neutrophil specific granule and NETosis defects in gray platelet syndrome." Blood Advances 5, no. 2 (January 25, 2021): 549–64. http://dx.doi.org/10.1182/bloodadvances.2020002442.
Kahr, Walter H. "Molecular Triggers of Granule Formation in Megakaryocytes and Platelets." Blood 120, no. 21 (November 16, 2012): SCI—34—SCI—34. http://dx.doi.org/10.1182/blood.v120.21.sci-34.sci-34.
Spitzer, S. G., B. J. Warn-Cramer, C. K. Kasper, and S. P. Bajaj. "Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not l-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins." Biochemical Journal 265, no. 1 (January 1, 1990): 219–25. http://dx.doi.org/10.1042/bj2650219.
Cullinane, Andrew R., Alejandro A. Schäffer, and Marjan Huizing. "The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease." Traffic 14, no. 7 (April 24, 2013): 749–66. http://dx.doi.org/10.1111/tra.12069.
Lyu, Xia, Janine A. Lamb, and Hector Chinoy. "The clinical relevance of WDFY4 in autoimmune diseases in diverse ancestral populations." Rheumatology, March 20, 2024. http://dx.doi.org/10.1093/rheumatology/keae183.
Wegner, Philine, Julia Drube, Lisa Ziegler, Birgit Strotmann, Raphaela Marquardt, Claudia Küchler, Marco Groth, Bernhard Nieswandt, Nico Andreas, and Sebastian Drube. "The Neurobeachin‐like 2 protein (NBEAL2) controls the homeostatic level of the ribosomal protein RPS6 in mast cells." Immunology, January 25, 2024. http://dx.doi.org/10.1111/imm.13756.
Cole, Eric S., Wolfgang Maier, Ewa Joachimiak, Yu-yang Jiang, Chinkyu Lee, Erik Collet, Carl Chmelik, et al. "The Tetrahymena bcd1 mutant implicates endosome trafficking in ciliate, cortical pattern formation." Molecular Biology of the Cell, May 10, 2023. http://dx.doi.org/10.1091/mbc.e22-11-0501.
Muellerleile, Julia, Aline Blistein, Astrid Rohlmann, Frederieke Scheiwe, Markus Missler, Stephan W. Schwarzacher, and Peter Jedlicka. "Enhanced LTP of population spikes in the dentate gyrus of mice haploinsufficient for neurobeachin." Scientific Reports 10, no. 1 (September 29, 2020). http://dx.doi.org/10.1038/s41598-020-72925-4.
Dissertations / Theses on the topic "BEACH-domain containing protein":
Koebke, Eva [Verfasser], Martin [Gutachter] Hülskamp, and Ute [Gutachter] Höcker. "The BEACH domain containing protein SPIRRIG in an interplay with TZF proteins and the characterization of SPIRRIG in M. polymorpha / Eva Koebke ; Gutachter: Martin Hülskamp, Ute Höcker." Köln : Universitäts- und Stadtbibliothek Köln, 2020. http://d-nb.info/122807187X/34.
Delage, Laure. "Des déficiences génétiques comme modèles naturels pour l'étude de la régulation des checkpoints immunitaires et la caractérisation des réponses auto-immunes." Electronic Thesis or Diss., Université Paris Cité, 2021. http://www.theses.fr/2021UNIP5190.
Recessive NBEAL2 mutations have been reported in patients with Gray Platelet Syndrome (GPS). This syndrome is characterized by a macro-thrombocytopenia, with platelets lacking alpha-granules, leading to bleeding disorders, often associated with splenomegaly. Thus, NBEAL2 plays a crucial role in the trafficking of alpha-granules in platelets. Moreover, our lab has also described NBEAL2 deficiencies in patients presenting clinical features of the autoimmune lymphoproliferative syndrome, suggesting a role of NBEAL2 in immune homeostasis and tolerance. A broader international cohort of GPS patients has been described, revealing immune system abnormalities (autoimmune diseases, autoantibodies, lymphopenia). If the role of NBEAL2 in the traffic of granules is often investigated, the exact mechanism leading to the development of autoimmune manifestations in GPS patients remains unknown. NBEAL2 belongs to a protein family involved in vesicular trafficking, all of which possess a conserved BEACH domain. Within this BEACH-domain containing proteins family, one of the closest members to NBEAL2 is LRBA. LRBA is involved in the recycling of CTLA-4, an inhibitory immune checkpoint. CTLA-4 plays a crucial role in the regulation of immune responses and tolerance. Recessive mutations of LRBA lead to similar clinical features as partial CTLA-4 deficiency: autoimmunity, lymphocytic infiltrations, and progressive B lymphopenia. Physiologically, LRBA prevents the lysosomal degradation of CTLA-4 and allows its recycling to the membrane. By analogy with LRBA, we investigated the importance of NBEAL2 in immune checkpoints intracellular trafficking and we brought new insights on its role in lymphocytes. Thus, NBEAL2 is a scaffold protein, binding LRBA, and involved in CTLA-4 trafficking as well as in vesicular trafficking in general. This work brings new knowledge to the regulation of CTLA-4 in activated T lymphocytes, a list of new partners for NBEAL2 protein and a new model of vesicular trafficking in which NBEAL2 is involved. Finally, a better understanding of the mechanisms leading to autoimmunity in patients with gray platelets syndrome could lead to better diagnosis and treatment management