Zobrazeno 1 - 10 of 123 pro vyhledávání: '"Bernhard E, Flucher"'
1
Akademický článek
CaV1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling
Autor: Simone Pelizzari, Martin C. Heiss, Monica L. Fernández-Quintero, Yousra El Ghaleb, Klaus R. Liedl, Petronel Tuluc, Marta Campiglio, Bernhard E. Flucher
Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Skeletal muscle contractions are initiated by action potentials, which are sensed by the voltage-gated calcium channel (CaV1.1) and are conformationally coupled to calcium release from intracellular stores. Notably, CaV1.1 contains four sepa
Externí odkaz: https://doaj.org/article/4b3622b2fdfd47c48bbf270c78f4c6df
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2
Akademický článek
Spatial transcriptomics in embryonic mouse diaphragm muscle reveals regional gradients and subdomains of developmental gene expression
Autor: Mehmet Mahsum Kaplan, Maximilian Zeidler, Annabella Knapp, Martina Hölzl, Michaela Kress, Helga Fritsch, Anne Krogsdam, Bernhard E. Flucher
Publikováno v: iScience, Vol 27, Iss 6, Pp 110018- (2024)
Summary: The murine embryonic diaphragm is a primary model for studying myogenesis and neuro-muscular synaptogenesis, both representing processes regulated by spatially organized genetic programs of myonuclei located in distinct myodomains. However,
Externí odkaz: https://doaj.org/article/4f91df643c4a4ae39ac0b310a4962d6f
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3
Akademický článek
Counteractive and cooperative actions of muscle β-catenin and CaV1.1 during early neuromuscular synapse formation
Autor: Mehmet Mahsum Kaplan, Bernhard E. Flucher
Publikováno v: iScience, Vol 25, Iss 4, Pp 104025- (2022)
Summary: Activity-dependent calcium signals in developing muscle play a crucial role in neuromuscular junction (NMJ) formation. However, its downstream effectors and interactions with other regulators of pre- and postsynaptic differentiation are poor
Externí odkaz: https://doaj.org/article/293fdecfe23742588ca1582a7c4eff09
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4
Akademický článek
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
Autor: Nadja T. Hofer, Petronel Tuluc, Nadine J. Ortner, Yuliia V. Nikonishyna, Monica L. Fernándes-Quintero, Klaus R. Liedl, Bernhard E. Flucher, Helen Cox, Jörg Striessnig
Publikováno v: Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)
Abstract Background There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca2+-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurologica
Externí odkaz: https://doaj.org/article/17049d6d3d1d4de5aa20a52604522e77
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5
Akademický článek
Structural determinants of voltage-gating properties in calcium channels
Autor: Monica L Fernández-Quintero, Yousra El Ghaleb, Petronel Tuluc, Marta Campiglio, Klaus R Liedl, Bernhard E Flucher
Publikováno v: eLife, Vol 10 (2021)
Voltage-gated calcium channels control key functions of excitable cells, like synaptic transmission in neurons and the contraction of heart and skeletal muscles. To accomplish such diverse functions, different calcium channels activate at different v
Externí odkaz: https://doaj.org/article/396cfdb917b248b285943a324d69ef21
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6
Akademický článek
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Autor: Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche
Publikováno v: PLoS Genetics, Vol 16, Iss 3, p e1008625 (2020)
P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming CaV2.1 α1 subunit and the auxiliary α2δ-2 and β4 subunits. β4 is encoded by CACNB4, and its
Externí odkaz: https://doaj.org/article/c050a185b2ed4033bb261d10262558d5
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7
Akademický článek
Calcium Influx and Release Cooperatively Regulate AChR Patterning and Motor Axon Outgrowth during Neuromuscular Junction Formation
Autor: Mehmet Mahsum Kaplan, Nasreen Sultana, Ariane Benedetti, Gerald J. Obermair, Nina F. Linde, Symeon Papadopoulos, Anamika Dayal, Manfred Grabner, Bernhard E. Flucher
Publikováno v: Cell Reports, Vol 23, Iss 13, Pp 3891-3904 (2018)
Summary: Formation of synapses between motor neurons and muscles is initiated by clustering of acetylcholine receptors (AChRs) in the center of muscle fibers prior to nerve arrival. This AChR patterning is considered to be critically dependent on cal
Externí odkaz: https://doaj.org/article/ca9415eed8b245d291d7bcab970a0a7f
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9
Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties
Autor: Yousra El Ghaleb, Monica L. Fernandez-Quintero, Marta Campiglio, Klaus R. Liedl, Astrid S. Plomp, Dewi P. Bakker, Mahdi M. Motazacker, Fanny Kortüm, Anne-Sophie Höing, Kerstin Kutsche, Bernhard E. Flucher
Publikováno v: Biophysical Journal, 122(3S1). Biophysical Society
el Ghaleb, Y, Fernandez-Quintero, M L, Campiglio, M, Liedl, K R, Plomp, A S, Bakker, D P, Motazacker, M M, Kortüm, F, Höing, A-S, Kutsche, K & Flucher, B E 2023, ' Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties ', Biophysical Journal, vol. 122, no. 3S1, pp. 107a . https://doi.org/10.1016/j.bpj.2022.11.763
Biophysical journal, 122(3S1). Biophysical Society
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0785867673a134b4c881761afe727185
https://doi.org/10.1016/j.bpj.2022.11.763
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