Search Results - "Hofer, Nadja T"

Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2‐neo mouse rescued by L‐type calcium channel blockers by Calorio, Chiara, Gavello, Daniela, Guarina, Laura, Salio, Chiara, Sassoè‐Pognetto, Marco, Riganti, Chiara, Bianchi, Federico Tommaso, Hofer, Nadja T., Tuluc, Petronel, Obermair, Gerald J., Defilippi, Paola, Balzac, Fiorella, Turco, Emilia, Bett, Glenna C., Rasmusson, Randall L., Carbone, Emilio

“…Key points Tymothy syndrome (TS) is a multisystem disorder featuring cardiac arrhythmias, autism and adrenal gland dysfunction that originates from a de novo…”
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Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder by Hofer, Nadja T, Tuluc, Petronel, Ortner, Nadine J, Nikonishyna, Yuliia V, Fernándes-Quintero, Monica L, Liedl, Klaus R, Flucher, Bernhard E, Cox, Helen, Striessnig, Jörg

“…There is increasing evidence that de novo missense mutations inducing increased Cav1.3 L-type Ca -channel-function confer a high risk for neurodevelopmental…”
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β2-subunit alternative splicing stabilizes Cav2.3 Ca2+ channel activity during continuous midbrain dopamine neuron-like activity by Siller, Anita, Hofer, Nadja T, Tomagra, Giulia, Burkert, Nicole, Hess, Simon, Benkert, Julia, Gaifullina, Aisylu, Spaich, Desiree, Duda, Johanna, Poetschke, Christina, Vilusic, Kristina, Fritz, Eva Maria, Schneider, Toni, Kloppenburg, Peter, Liss, Birgit, Carabelli, Valentina, Carbone, Emilio, Ortner, Nadine Jasmin, Striessnig, Jörg

“…In dopaminergic (DA) Substantia nigra (SN) neurons Cav2.3 R-type Ca 2+ -currents contribute to somatodendritic Ca 2+ -oscillations. This activity may…”
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The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice by Ortner, Nadine J, Sah, Anupam, Paradiso, Enrica, Shin, Josef, Stojanovic, Strahinja, Hammer, Niklas, Haritonova, Maria, Hofer, Nadja T, Marcantoni, Andrea, Guarina, Laura, Tuluc, Petronel, Theiner, Tamara, Pitterl, Florian, Ebner, Karl, Oberacher, Herbert, Carbone, Emilio, Stefanova, Nadia, Ferraguti, Francesco, Singewald, Nicolas, Roeper, Jochen, Striessnig, Jörg

“…Germline de novo missense variants of the CACNA1D gene, encoding the pore-forming α1 subunit of Cav1.3 L-type Ca2+ channels (LTCCs), have been found in…”
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RBP2 stabilizes slow Cav1.3 Ca2+ channel inactivation properties of cochlear inner hair cells by Ortner, Nadine J., Pinggera, Alexandra, Hofer, Nadja T., Siller, Anita, Brandt, Niels, Raffeiner, Andrea, Vilusic, Kristina, Lang, Isabelle, Blum, Kerstin, Obermair, Gerald J., Stefan, Eduard, Engel, Jutta, Striessnig, Jörg

“…Cav1.3 L-type Ca 2+ channels (LTCCs) in cochlear inner hair cells (IHCs) are essential for hearing as they convert sound-induced graded receptor potentials…”
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Stabilization of negative activation voltages of Cav1.3 L-Type Ca2+-channels by alternative splicing by Hofer, Nadja T., Pinggera, Alexandra, Nikonishyna, Yuliia V., Tuluc, Petronel, Fritz, Eva M., Obermair, Gerald J., Striessnig, Jörg

“…-->Low voltage-activated Cav1.3 L-type Ca 2+ -channels are key regulators of neuronal excitability controlling neuronal development and different types of…”
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Stabilization of negative activation voltages of Cav1.3 L-Type Ca 2+ -channels by alternative splicing by Hofer, Nadja T, Pinggera, Alexandra, Nikonishyna, Yuliia V, Tuluc, Petronel, Fritz, Eva M, Obermair, Gerald J, Striessnig, Jörg

“…-->Low voltage-activated Cav1.3 L-type Ca -channels are key regulators of neuronal excitability controlling neuronal development and different types of…”
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Missense mutations in voltage-gated calcium channels associated with neurodevelopmental and neurodegenerative disorders by Nikonishyna, Yuliia V., Hofer, Nadja T., Ortner, Nadine J., Kaserer, Teresa, Hoffman, Jessica, Biskup, Saskia, Dafotakis, Manuel, Schulz, Jörg B., Dohrn, Maike F., Striessnig, Jörg

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β2-subunit alternative splicing stabilizes Cav2.3 Ca 2+ channel activity during continuous midbrain dopamine neuron-like activity by Siller, Anita, Hofer, Nadja T, Tomagra, Giulia, Burkert, Nicole, Hess, Simon, Benkert, Julia, Gaifullina, Aisylu, Spaich, Desiree, Duda, Johanna, Poetschke, Christina, Vilusic, Kristina, Fritz, Eva Maria, Schneider, Toni, Kloppenburg, Peter, Liss, Birgit, Carabelli, Valentina, Carbone, Emilio, Ortner, Nadine Jasmin, Striessnig, Jörg

“…In dopaminergic (DA) (SN) neurons Cav2.3 R-type Ca -currents contribute to somatodendritic Ca -oscillations. This activity may contribute to the selective…”
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RBP2 stabilizes slow Cav1.3 Ca 2+ channel inactivation properties of cochlear inner hair cells by Ortner, Nadine J, Pinggera, Alexandra, Hofer, Nadja T, Siller, Anita, Brandt, Niels, Raffeiner, Andrea, Vilusic, Kristina, Lang, Isabelle, Blum, Kerstin, Obermair, Gerald J, Stefan, Eduard, Engel, Jutta, Striessnig, Jörg

“…Cav1.3 L-type Ca channels (LTCCs) in cochlear inner hair cells (IHCs) are essential for hearing as they convert sound-induced graded receptor potentials into…”
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