Zobrazeno 1 - 10
of 10
pro vyhledávání: '"genetics [Potassium Channels]"'
Autor:
Andrea Merseburg, Jacquelin Kasemir, Eric W Buss, Felix Leroy, Tobias Bock, Alessandro Porro, Anastasia Barnett, Simon E Tröder, Birgit Engeland, Malte Stockebrand, Anna Moroni, Steven A Siegelbaum, Dirk Isbrandt, Bina Santoro
Publikováno v:
eLife 11, e70826 (2022). doi:10.7554/eLife.70826
De novo mutations in voltage- and ligand-gated channels have been associated with an increasing number of cases of developmental and epileptic encephalopathies, which often fail to respond to classic antiseizure medications. Here, we examine two knoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c24e442810db530d53bc381f3222049
http://hdl.handle.net/10261/306844
http://hdl.handle.net/10261/306844
Autor:
David M. Hunt, Nathan S. Hart, Melanie Barth, Paula I. Fuller-Carter, Jeanne M. Nerbonne, Valentina Voigt, Jessica K. Mountford, Livia S. Carvalho
Publikováno v:
eNeuro
eNeuro 6(1), ENEURO.0032-19.2019 (2019). doi:10.1523/ENEURO.0032-19.2019
eNeuro 6(1), ENEURO.0032-19.2019 (2019). doi:10.1523/ENEURO.0032-19.2019
Mutations in theKCNV2gene, which encodes the voltage-gated K+channel protein Kv8.2, cause a distinctive form of cone dystrophy with a supernormal rod response (CDSRR). Kv8.2 channel subunits only form functional channels when combined in a heterotetr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1dd488f06c947a9fb98618936ab8a9b
http://europepmc.org/articles/PMC6393689
http://europepmc.org/articles/PMC6393689
Autor:
Nigel J. Cairns, Merel O. Mol, Gregory D. Jenkins, Leonard Petrucelli, Nilufer Ertekin-Taner, Stuart Pickering-Brown, Carlos Cruchaga, Edward B. Lee, Jonathan D. Glass, John C. van Swieten, Jonathan D. Rohrer, Keith A. Josephs, Patrizia Rizzu, Johannes Prudlo, Edward D. Huey, Cristina T. Vicente, Shulan Tian, Claire Troakes, Ging-Yuek Robin Hsiung, Julie S. Snowden, Lawrence S. Honig, Jean Paul G. Vonsattel, Yan W. Asmann, Matthis Synofzik, Sigrun Roeber, Jeroen van Rooij, Ralph B. Perkerson, Eric M. Reiman, Charles L. White, Ethan G. Geier, Billie J. Matchett, Robert A. Rissman, Julia Keith, David J. Irwin, Manuela Neumann, Dieter Edbauer, M.-Marsel Mesulam, Jochen Herms, Vivianna M. Van Deerlin, Jordan Grafman, Melissa E. Murray, Oscar L. Lopez, Bernardino Ghetti, Rosa Rademakers, Bradley F. Boeve, Ekaterina Rogaeva, Sara Rollinson, Marla Gearing, Geoffrey L. Ahern, Zachary C. Fogarty, Peter Heutink, Yingxue Ren, Javier Simón-Sánchez, David G. Mann, Bryan K. Woodruff, Ryan J. Uitti, Martin R. Farlow, Lea T. Grinberg, Murray Grossman, Julia Kofler, Ian R. A. Mackenzie, Jennifer S. Yokoyama, Lorne Zinman, Matt Baker, John Q. Trojanowski, Zbigniew K. Wszolek, Cyril Pottier, Changiz Geula, Thomas Arzberger, Dennis W. Dickson, Joanna M. Biernacka, William W. Seeley, Caroline Graff, Olivier Piguet, John B.J. Kwok, Joseph E. Parisi, Safa Al-Sarraj, Harro Seelaar, Elizabeth Christopher, Ronald C. Petersen, Linn Öijerstedt, Anna Karydas, Salvatore Spina, Carlo Wilke, Marka van Blitterswijk, Simon Mead, Janine Diehl-Schmid, Bret M. Evers, David S. Knopman, Kevin F. Bieniek, John R. Hodges, Anthony Batzler, Mariely DeJesus-Hernandez, Elizabeth Finger, Thomas G. Beach, EunRan Suh, Maria Carmela Tartaglia, Sandra Weintraub, Shannon K. McDonnell, Bruce L. Miller, Glenda M. Halliday, Andy King, Eileen H. Bigio, Neill R. Graff-Radford, Richard J. Caselli
Publikováno v:
Acta Neuropathologica, 137(6), 879-899. Springer-Verlag
Acta Neuropathol
Acta neuropathologica 137(6), 879-899 (2019). doi:10.1007/s00401-019-01962-9
Acta neuropathologica
Acta Neuropathol
Acta neuropathologica 137(6), 879-899 (2019). doi:10.1007/s00401-019-01962-9
Acta neuropathologica
Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) represents the most common pathological subtype of FTLD. We established the international FTLD-TDP whole-genome sequencing consortium to thoroughl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1500c504ddc41a67b8cb5e111941d5d5
https://pure.eur.nl/en/publications/ec4efc7a-1a6b-4346-af9a-7b821d069c4d
https://pure.eur.nl/en/publications/ec4efc7a-1a6b-4346-af9a-7b821d069c4d
Autor:
Wolfgang Bönigk, Sylvain Moser, Silvia Oldani, Heinz Beck, Franziska Schneider-Warme, Dietmar Schmitz, Martin Pofahl, Prateep Beed, Herwig Baier, Dominik Holtkamp, António M. Fernandes, Nicola Masala, Reinhard Seifert, Peter Kohl, Yinth Andrea Bernal Sierra, Peter Hegemann, John J. Tukker, Ramona A. Kopton, Benjamin R. Rost
Publikováno v:
Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Nature Communications 9(1), 4611 (2018). doi:10.1038/s41467-018-07038-8
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Nature Communications 9(1), 4611 (2018). doi:10.1038/s41467-018-07038-8
Optogenetics enables manipulation of biological processes with light at high spatio-temporal resolution to control the behavior of cells, networks, or even whole animals. In contrast to the performance of excitatory rhodopsins, the effectiveness of i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350803fd679d511f6260258bdf231106
https://hdl.handle.net/21.11116/0000-0003-5013-D21.11116/0000-0003-5015-B
https://hdl.handle.net/21.11116/0000-0003-5013-D21.11116/0000-0003-5015-B
Autor:
Martin Biel, Mathias W. Seeliger, Sabrina Asteriti, Christian Schön, Vithiyanjali Sothilingam, Jochen Herms, Stylianos Michalakis, Naoyuki Tanimoto, Susanne Koch, Marina Garcia Garrido, Lorenzo Cangiano
Publikováno v:
Human molecular genetics 25(6), 1165-1175 (2016). doi:10.1093/hmg/ddv639
Most inherited blinding diseases are characterized by compromised retinal function and progressive degeneration of photoreceptors. However, the factors that affect the life span of photoreceptors in such degenerative retinal diseases are rather poorl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8f8c6b1faf1e1bcaeeee5f0b4e42b7
https://doi.org/10.1093/hmg/ddv639
https://doi.org/10.1093/hmg/ddv639
Autor:
Mencacci, Niccolo E, Rubio-Agusti, Ignacio, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M P, Peall, Kathryn, Morris, Huw R, Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Carecchio, Miryam, Zdebik, Anselm, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M, Foltynie, Thomas, Abramov, Andrey Y, Asmus, Friedrich, Gasser, Thomas, Bhatia, Kailash P, Wood, Nicholas W, Ludtmann, Marthe H R, Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The American journal of human genetics 96(6), 938-947 (2015). doi:10.1016/j.ajhg.2015.04.008
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The American journal of human genetics 96(6), 938-947 (2015). doi:10.1016/j.ajhg.2015.04.008
Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%-50% of cases. After excluding SGCE mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::24661a39fc086395842a819625c39e51
Autor:
Christine Schwienbacher, Andrew A. Hicks, Maurizio F. Facheris, Fabio Marroni, Christian Tellgren-Roth, Cristian Pattaro, James F. Gusella, Ulf Gyllensten, Christian Fuchsberger, Peter P. Pramstaller, Yiping Shen, Irene Pichler, Alice Serafin, Alessandra Zanon
Publikováno v:
Journal of Molecular Neuroscience. 49:600-605
Restless legs syndrome (RLS) is a sleep-related movement disorder that affects up to 15 % of the population. Linkage studies have identified several genomic loci in single families (12q, 14q, 9p, 2q, 20p and 16p, respectively). However, confirmation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdf9b60f9fc9941949dc13be55bd0ef8
https://doi.org/10.1007/s12031-012-9891-5
https://doi.org/10.1007/s12031-012-9891-5
Autor:
Anne Fernandez, Dirk Isbrandt, Matteo E. Mangoni, Heimo Ehmke, Jana Christina Müller, Stefan J. Dubel, Anika Seniuk, Pietro Mesirca, Laurine Marger, Jacqueline Alig, Isabelle Bidaud, Claire Marquilly, Thomas Eschenhagen, Angelo G. Torrente, Anne Vincent, Lucile Miquerol, Anne Rollin, Birgit Engeland, Jasmin Singh, Joël Nargeot, Kevin Wickman
Publikováno v:
Nature Communications 5(1), 4664 (2014). doi:10.1038/ncomms5664
Nature Communications
Nature Communications, Nature Publishing Group, 2014, 5, pp.4664. ⟨10.1038/ncomms5664⟩
Nature communications
Nature Communications, 2014, 5, pp.4664. ⟨10.1038/ncomms5664⟩
Nature Communications
Nature Communications, Nature Publishing Group, 2014, 5, pp.4664. ⟨10.1038/ncomms5664⟩
Nature communications
Nature Communications, 2014, 5, pp.4664. ⟨10.1038/ncomms5664⟩
The mechanisms underlying cardiac automaticity are still incompletely understood and controversial. Here we report the complete conditional and time-controlled silencing of the 'funny' current (If) by expression of a dominant-negative, non-conductive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4671a50b886a0c7113aff1d6d2c8f243
https://pub.dzne.de/record/137523
https://pub.dzne.de/record/137523
Autor:
Eric Strengman, Ruben van 't Slot, Peter C. Sapp, Thomas F. Meyer, Anna Birve, Peter M. Andersen, Martin D. Tobin, Max Koppers, Ewout J N Groen, Albert C. Ludolph, Simon Cronin, Sita H. Vermeulen, Claudia Schulte, Jan H. Veldink, André G. Uitterlinden, Robin Lemmens, Paul W.J. van Vught, Thomas Gasser, Lambertus A. Kiemeney, Christiaan G J Saris, Hylke M. Blauw, Leonard H. van den Berg, Frank P. Diekstra, Fernando Rivadeneira, Karol Estrada, Robert H. Brown, Agnieszka Slowik, Barbara Tomik, Louise V. Wain, Russell L. McLaughlin, Dan Rujescu, Michael A. van Es, Albert Hofman, Wim Robberecht, Ammar Al-Chalabi, Wouter van Rheenen, John Landers, Orla Hardiman, Roel A. Ophoff, Stefan Waibel
Publikováno v:
Human Molecular Genetics, 19(20), 4091-4099. Oxford University Press
Human Molecular Genetics, 19, 4091-9
Human Molecular Genetics, 19, 20, pp. 4091-9
Human molecular genetics 19(20), 4091-4099 (2010). doi:10.1093/hmg/ddq323
Human Molecular Genetics, 19, 4091-9
Human Molecular Genetics, 19, 20, pp. 4091-9
Human molecular genetics 19(20), 4091-4099 (2010). doi:10.1093/hmg/ddq323
Contains fulltext : 89076.pdf (Publisher’s version ) (Closed access) Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5051003a389deaa95753dddc4300e6b
https://pure.eur.nl/en/publications/6eb12705-5eec-4ad0-a977-6821c30e85ef
https://pure.eur.nl/en/publications/6eb12705-5eec-4ad0-a977-6821c30e85ef
Autor:
Knop, G.C., Seeliger, M.W., Thiel, F., Mataruga, A., Kaupp, U. B., Friedburg, C., Tanimoto, N., Müller, F.
Publikováno v:
European journal of neuroscience 28, 2221-2230 (2008). doi:10.1111/j.1460-9568.2008.06512.x
Hyperpolarization-activated and cyclic nucleotide-gated (HCN) channels contribute to pacemaker activity, and co-determine the integrative behaviour of neurons and shape their response to synaptic stimulation. Four channel isoforms, HCN1-4, have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3042f5feb25f43bb731f069e2cb465da
https://pubmed.ncbi.nlm.nih.gov/19019198
https://pubmed.ncbi.nlm.nih.gov/19019198