Zobrazeno 1 - 10 of 14 pro vyhledávání: '"Nadja T, Hofer"'
1
Akademický článek
The human channel gating–modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome–like phenotype in mice
Autor: Nadine J. Ortner, Anupam Sah, Enrica Paradiso, Josef Shin, Strahinja Stojanovic, Niklas Hammer, Maria Haritonova, Nadja T. Hofer, Andrea Marcantoni, Laura Guarina, Petronel Tuluc, Tamara Theiner, Florian Pitterl, Karl Ebner, Herbert Oberacher, Emilio Carbone, Nadia Stefanova, Francesco Ferraguti, Nicolas Singewald, Jochen Roeper, Jörg Striessnig
Publikováno v: JCI Insight, Vol 8, Iss 20 (2023)
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 patients with neurodevelopmental and endocrine dysfunction, but their disease-causing potential i
Externí odkaz: https://doaj.org/article/6c217573f67344608c7a051a8ed2797f
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2
Akademický článek
β2-subunit alternative splicing stabilizes Cav2.3 Ca2+ channel activity during continuous midbrain dopamine neuron-like activity
Autor: Anita Siller, Nadja T Hofer, Giulia Tomagra, Nicole Burkert, Simon Hess, Julia Benkert, Aisylu Gaifullina, Desiree Spaich, Johanna Duda, Christina Poetschke, Kristina Vilusic, Eva Maria Fritz, Toni Schneider, Peter Kloppenburg, Birgit Liss, Valentina Carabelli, Emilio Carbone, Nadine Jasmin Ortner, Jörg Striessnig
Publikováno v: eLife, Vol 11 (2022)
In dopaminergic (DA) Substantia nigra (SN) neurons Cav2.3 R-type Ca2+-currents contribute to somatodendritic Ca2+-oscillations. This activity may contribute to the selective degeneration of these neurons in Parkinson’s disease (PD) since Cav2.3-kno
Externí odkaz: https://doaj.org/article/9faa676ef6d24167b54187fd03cc356d
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3
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
Stabilization of negative activation voltages of Cav1.3 L-Type Ca2+-channels by alternative splicing
Autor: Alexandra Pinggera, Jörg Striessnig, Petronel Tuluc, Nadja T. Hofer, Yuliia V. Nikonishyna, Gerald J. Obermair, Eva Maria Fritz
Publikováno v: Channels
article-version (VoR) Version of Record
>Low voltage-activated Cav1.3 L-type Ca2+-channels are key regulators of neuronal excitability controlling neuronal development and different types of learning and memory. Their physiological functions are enabled by their negative activation voltage
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df33df311e5ea18f818682d085939a30
https://doi.org/10.1080/19336950.2020.1859260
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6
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
Autor: Yuliia V. Nikonishyna, Klaus R. Liedl, Petronel Tuluc, Monica L. Fernándes-Quintero, Nadja T. Hofer, Jörg Striessnig, Bernhard E. Flucher, Nadine J. Ortner, Helen Cox
Publikováno v: Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)
Molecular Autism
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 end
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9627f86795a69890ce21207974840e6
https://doaj.org/article/17049d6d3d1d4de5aa20a52604522e77
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Plný text Recenzováno Digitální knihovna AV ČR
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