Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Nadine J. Ortner"'
1
Akademický článek
Novel protocol for multiple-dose oral administration of the L-type Ca2+ channel blocker isradipine in mice: A dose-finding pharmacokinetic study
Autor: Tamara Theiner, Nadine J. Ortner, Herbert Oberacher, Gospava Stojanovic, Petronel Tuluc, Jörg Striessnig
Publikováno v: Channels, Vol 18, Iss 1 (2024)
ABSTRACTStudies in genetically modified animals and human genetics have recently provided new insight into the role of voltage-gated L-type Ca2+ channels in human disease. Therefore, the inhibition of L-type Ca2+ channels in vivo in wildtype and muta
Externí odkaz: https://doaj.org/article/4cfc8ebd208040138c4c3d379c9c6b0f
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2
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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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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4
Akademický článek
Voltage-Gated Ca2+ Channels in Dopaminergic Substantia Nigra Neurons: Therapeutic Targets for Neuroprotection in Parkinson's Disease?
Autor: Nadine J. Ortner
Publikováno v: Frontiers in Synaptic Neuroscience, Vol 13 (2021)
The loss of dopamine (DA)-producing neurons in the substantia nigra pars compacta (SN) underlies the core motor symptoms of the progressive movement disorder Parkinson's disease (PD). To date, no treatment to prevent or slow SN DA neurodegeneration e
Externí odkaz: https://doaj.org/article/77756958698b4d8cbb2b5ca893f2f80f
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6
Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies
Autor: Ferenc Török, Kamer Tezcan, Ludovica Filippini, Monica L Fernández-Quintero, Lucia Zanetti, Klaus R Liedl, Raphaela S Drexel, Jörg Striessnig, Nadine J Ortner
Publikováno v: Human molecular genetics.
Germline gain-of-function missense variants in the pore-forming Cav1.3 α1-subunit (CACNA1D gene) confer high risk for a severe neurodevelopmental disorder with or without endocrine symptoms. Here, we report a 4-week-old new-born with the novel de no
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b6caf33484549cfdf5455b3d81c10f3
https://pubmed.ncbi.nlm.nih.gov/36208199
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7
Calcium current modulation by the γ1 subunit depends on alternative splicing of CaV1.1
Autor: Yousra El Ghaleb, Nadine J. Ortner, Wilfried Posch, Monica L. Fernández-Quintero, Wietske E. Tuinte, Stefania Monteleone, Henning J. Draheim, Klaus R. Liedl, Doris Wilflingseder, Jörg Striessnig, Petronel Tuluc, Bernhard E. Flucher, Marta Campiglio
Publikováno v: Journal of General Physiology. 154
The skeletal muscle voltage-gated calcium channel (CaV1.1) primarily functions as a voltage sensor for excitation–contraction coupling. Conversely, its ion-conducting function is modulated by multiple mechanisms within the pore-forming α1S subunit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199c5f55f4cd55da7f0664f56539c5f6
https://doi.org/10.1085/jgp.202113028
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8
De novo CACAN1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism
Autor: Jörg Striessnig, Teresa Kaserer, Nadine J. Ortner, J. Nathan Copeland
Publikováno v: Pflugers Archiv
Pflugers Arch
The identification of rare disease-causing variants in humans by large-scale next-generation sequencing (NGS) studies has also provided us with new insights into the pathophysiological role of de novo missense variants in the CACNA1D gene that encode
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527c173e852e7c34920306ddb286d84
https://doi.org/10.1007/s00424-020-02418-w
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9
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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