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Bernhard E. Flucher
Innsbruck Medical University
Protein subunitVoltage-dependent calcium channelSkeletal muscleCalcium channelBiology
108Publications
37H-index
3,373Citations
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Publications 111
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#2Leonie von Elsner (UHH: University of Hamburg)H-Index: 2
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
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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 multiple splice variants serve isoform-specific functions as channel subunits and transcriptional regulators in the nucleus. In two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrop...
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#1Nadja HoferH-Index: 1
#2Petronel TulucH-Index: 15
Last. Jörg StriessnigH-Index: 58
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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 neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely disease-causing from non-pathogenic de novo CACNA1D variants in affe...
1 CitationsSource
Proper formation of neuromuscular synapses requires the reciprocal communication between motor neurons and muscle cells. Several anterograde and retrograde signals involved in neuromuscular junction formation are known. However the postsynaptic mechanisms regulating presynaptic differentiation are still incompletely understood. Here we report that the skeletal muscle calcium channel (CaV1.1) is required for motor nerve differentiation and that the mechanism by which CaV1.1 controls presynaptic d...
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Abstract Excitation-contraction coupling is the signaling process by which action potentials control calcium release and consequently the force of muscle contraction. Until recently, three triad proteins were known to be essential for skeletal muscle EC coupling: the voltage-gated calcium channel CaV1.1 acting as voltage sensor, the SR calcium release channel RyR1 representing the only relevant calcium source, and the auxiliary CaV β1a subunit. Whether CaV1.1 and RyR1 are directly coupled or whe...
3 CitationsSource
#2Marta CampiglioH-Index: 8
Last. Bernhard E. FlucherH-Index: 37
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ABSTRACTThe voltage-gated calcium channel CaV1.1a primarily functions as voltage-sensor in skeletal muscle excitation-contraction (EC) coupling. In embryonic muscle the splice variant CaV1.1e, which lacks exon 29, additionally function as a genuine L-type calcium channel. Because previous work in most laboratories used a CaV1.1 expression plasmid containing a single amino acid substitution (R165K) of a critical gating charge in the first voltage-sensing domain (VSD), we corrected this substituti...
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2 CitationsSource
#1Pierre Costé de Bagneaux (Innsbruck Medical University)H-Index: 3
#2Marta Campiglio (Innsbruck Medical University)H-Index: 8
Last. Bernhard E. Flucher (Innsbruck Medical University)H-Index: 37
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ABSTRACTVoltage-dependent calcium channels (CaV) activate over a wide range of membrane potentials, and the voltage-dependence of activation of specific channel isoforms is exquisitely tuned to their diverse functions in excitable cells. Alternative splicing further adds to the stunning diversity of gating properties. For example, developmentally regulated insertion of an alternatively spliced exon 29 in the fourth voltage-sensing domain (VSD IV) of CaV1.1 right-shifts voltage-dependence of acti...
3 CitationsSource
#2Nasreen SultanaH-Index: 2
Last. Bernhard E. FlucherH-Index: 37
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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 calcium influx through L-type channels (CaV1.1). Using a genetic approach in mice, we demonstrate here that either the L-type calcium currents (LTCCs) or sarcoplasmic reticulum (SR) calcium release is necessary and sufficient to regulate AChR clustering ...
2 CitationsSource
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