Zobrazeno 1 - 10
of 13
pro vyhledávání: '"genetics, Intracellular Signaling Peptides and Proteins"'
Autor:
Yuko Fukata, Rosanna P. Sammons, Daniel Parthier, Masaki Fukata, Alexander B. Kowski, Dietmar Schmitz, Hans-Christian Kornau, Barbara Imbrosci, Jakob Kreye, Harald Prüss, Sarah Kurpjuweit, Alexander Stumpf
Publikováno v:
Annals of neurology 87(3), 405-418 (2020). doi:10.1002/ana.25666
Objective Leucine-rich glioma-inactivated 1 (LGI1) encephalitis is the second most common antibody-mediated encephalopathy, but insight into the intrathecal B-cell autoimmune response, including clonal relationships, isotype distribution, frequency,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0322489a49db8b9bb4adf18b8bed3fb8
https://doi.org/10.1002/ana.25666
https://doi.org/10.1002/ana.25666
Autor:
Martina Schifferer, Ludovico Cantuti-Castelvetri, Susanne A. Schneider, Sabina Tahirovic, Andrew P. Lieberman, Jasmin König, Lina Dinkel, Silva Hećimović, Laura Sebastian Monasor, Tatiana Bremova-Ertl, Lea Vidatic, Alessio Colombo, Stephan A. Müller, Stefan F. Lichtenthaler, Michael Strupp, Mikael Simons
Publikováno v:
Nature communications
Nature Communications 12(1), 1158 (2021). doi:10.1038/s41467-021-21428-5
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
Colombo, Alessio; Dinkel, Lina; Müller, Stephan A; Sebastian Monasor, Laura; Schifferer, Martina; Cantuti-Castelvetri, Ludovico; König, Jasmin; Vidatic, Lea; Bremova-Ertl, Tatiana; Lieberman, Andrew P; Hecimovic, Silva; Simons, Mikael; Lichtenthaler, Stefan F; Strupp, Michael; Schneider, Susanne A; Tahirovic, Sabina (2021). Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia. Nature Communications, 12(1), p. 1158. Springer Nature 10.1038/s41467-021-21428-5
Nature Communications 12(1), 1158 (2021). doi:10.1038/s41467-021-21428-5
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
Colombo, Alessio; Dinkel, Lina; Müller, Stephan A; Sebastian Monasor, Laura; Schifferer, Martina; Cantuti-Castelvetri, Ludovico; König, Jasmin; Vidatic, Lea; Bremova-Ertl, Tatiana; Lieberman, Andrew P; Hecimovic, Silva; Simons, Mikael; Lichtenthaler, Stefan F; Strupp, Michael; Schneider, Susanne A; Tahirovic, Sabina (2021). Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia. Nature Communications, 12(1), p. 1158. Springer Nature 10.1038/s41467-021-21428-5
Niemann-Pick type C disease is a rare neurodegenerative disorder mainly caused by mutations in NPC1, resulting in abnormal late endosomal/lysosomal lipid storage. Although microgliosis is a prominent pathological feature, direct consequences of NPC1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293f3dd22cdadfd9d9d515dc2698deab
http://fulir.irb.hr/6941/
http://fulir.irb.hr/6941/
Autor:
Atsushi Nambu, Makoto Sanbo, Xiumin Chen, Yuko Fukata, Harald Prüss, Hans-Christian Kornau, Hiroki Inahashi, Masumi Hirabayashi, Teppei Goto, Roger A. Nicoll, Yoko Hirano, Atsushi Yamagata, Satomi Chiken, Masaki Fukata, Shuya Fukai, Hiromi Sano
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America 118(3), e2022580118-(2021). doi:10.1073/pnas.2022580118
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America
Significance This study addresses a fundamental question in neuroscience, namely how does the presynaptic component of the synapse precisely align with the postsynaptic component? This is essential for the proper transmission of signals across the sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68628950b12bc111c5ad4ecbb0ec6b28
Autor:
Moritz J. Frech, Katharina Huth, Jan Lukas, Maik Liedtke, Alexandra V Jürs, Andreas Hermann, Christin Völkner
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 20
International journal of molecular sciences 21(20), 7667-(2020). doi:10.3390/ijms21207667
International Journal of Molecular Sciences, Vol 21, Iss 7667, p 7667 (2020)
Volume 21
Issue 20
International journal of molecular sciences 21(20), 7667-(2020). doi:10.3390/ijms21207667
International Journal of Molecular Sciences, Vol 21, Iss 7667, p 7667 (2020)
Oxidative stress (OS) represents a state of an imbalanced amount of reactive oxygen species (ROS) and/or a hampered efficacy of the antioxidative defense system. Cells of the central nervous system are particularly sensitive to OS, as they have a mas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7332a837a6bb9fca587159c46d34a479
Autor:
Moritz J. Frech, Michael Rabenstein, Zhen Wang, Andreas Wree, Jiankai Luo, Xiao Feng, Anne Gläser, Martin Witt, Andreas Hermann, Fan Yang, Anja U Bräuer, Arndt Rolfs
Publikováno v:
Cerebral cortex 30(3), 1465-1480 (2019). doi:10.1093/cercor/bhz179
Niemann–Pick type C1 (NPC1) disease is characterized by neurodegeneration caused by cholesterol accumulation in the late endosome/lysosome. In this study, a defective basal and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-stimulated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c382fe91f25359270c840278297de72
Autor:
Amit Kawalia, Antonio del Sol, Tobias Luck, Per Hoffmann, Bart P. F. Rutten, Michael Wagner, Markus Leber, Roy Lardenoije, Muhammad Ali, Diego Mastroeni, Luca Kleineidam, Lars M. T. Eijssen, Wolfgang Maier, Steffi G. Riedel-Heller, René Hurlemann, Janou A. Y. Roubroeks, Frank Jessen, Adam Smith, Ehsan Pishva, Jonathan Mill, Alfredo Ramirez, Paul D. Coleman, Elaine Delvaux, Gunter Kenis, Daniel L.A. van den Hove, Rebecca G. Smith, Artemis Iatrou, Holger Wagner, Katie Lunnon
Publikováno v:
Clinical Epigenetics
Clinical epigenetics, 11(1):164. BioMed Central Ltd
Clinical epigenetics 11(1), 164 (2019). doi:10.1186/s13148-019-0755-5
Clinical epigenetics, 11(1):164. BioMed Central Ltd
Clinical epigenetics 11(1), 164 (2019). doi:10.1186/s13148-019-0755-5
Background Late-onset Alzheimer’s disease (AD) is a complex multifactorial affliction, the pathogenesis of which is thought to involve gene-environment interactions that might be captured in the epigenome. The present study investigated epigenome-w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f349fd0e97a24d37164af41062a134f9
https://doi.org/10.1186/s13148-019-0755-5
https://doi.org/10.1186/s13148-019-0755-5
Autor:
Feng, Xiao, Cozma, Claudia, Pantoom, Supansa, Hund, Christina, Iwanov, Katharina, Petters, Janine, Völkner, Christin, Bauer, Claudia, Vogel, Florian, Bauer, Peter, Weiss, Frank U., Lerch, Markus M., Knospe, Anne-Marie, Hermann, Andreas, Frech, Moritz J., Luo, Jiankai, Rolfs, Arndt, Lukas, Jan
Publikováno v:
International journal of molecular sciences 20(20), 5185 (2019). doi:10.3390/ijms20205185
International Journal of Molecular Sciences, Vol 20, Iss 20, p 5185 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 20
International Journal of Molecular Sciences, Vol 20, Iss 20, p 5185 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 20
Niemann-Pick Type C (NP-C) is a rare disorder of lipid metabolism caused by mutations within the NPC1 and NPC2 genes. NP-C is a neurovisceral disease leading to a heterogeneous, multisystemic spectrum of symptoms in those affected. Until now, there i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6a64dd6a3ccb59dd0cb1e775e8936b39
Autor:
Andreas Papassotiropoulos, Angela Heck, Hans-Jochen Heinze, Annette Milnik, Christian Vogler, Dominique J.-F. de Quervain
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
American journal of medical genetics. Part B Neuropsychiatric genetics : the official publication o
American journal of medical genetics / B 159B(8), 958-969 (2012). doi:10.1002/ajmg.b.32101
American journal of medical genetics. Part B Neuropsychiatric genetics : the official publication o
American journal of medical genetics / B 159B(8), 958-969 (2012). doi:10.1002/ajmg.b.32101
WWC1 was first implicated in human cognition through a genome wide association study in 2006 that reported an association of the intronic single nucleotide polymorphism (SNP) rs17070145 with episodic memory performance. WWC1 encodes the protein KIBRA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1fed55e85d85a2e5360c3a7a38e82a
https://doi.org/10.1002/ajmg.b.32101
https://doi.org/10.1002/ajmg.b.32101
Autor:
Anselmo Jiro Kamada, Telma Miyuki Oshiro, Alberto José da Silva Duarte, Sergio Crovella, Alessandra Pontillo, Martina Girardelli
Publikováno v:
JAIDS Journal of Acquired Immune Deficiency Syndromes. 59:121-125
The involvement of inflammasome genes in the susceptibility to HIV-1 infection was investigated. Twelve single nucleotide polymorphisms within NLRP1, NLRP3, NLRC4, CARD8, CASP1, and IL1B genes were analyzed in 150 HIV-1-infected Brazilian subjects an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c11610794e55a268a9283a3cc19e3a0
https://doi.org/10.1097/qai.0b013e3182392ebe
https://doi.org/10.1097/qai.0b013e3182392ebe
Autor:
Nora Wender, Tim Bartels, Jan Hegermann, Konstanze F. Winklhofer, Christian Haass, Bettina Brunner, Frits Kamp, Anne Kathrin Lutz, Nicole Exner, Brigitte Nuscher, Armin Giese, Stefan Eimer, Klaus Beyer
Publikováno v:
The EMBO journal 29(20), 3571-3589 (2010). doi:10.1038/emboj.2010.223
Aggregation of α-synuclein (αS) is involved in the pathogenesis of Parkinson's disease (PD) and a variety of related neurodegenerative disorders. The physiological function of αS is largely unknown. We demonstrate with in vitro vesicle fusion expe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::671a792c16e87456464177b9e6869f43
https://doi.org/10.1038/emboj.2010.223
https://doi.org/10.1038/emboj.2010.223