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Alexandra Pinggera
Researcher at Laboratory of Molecular Biology
Publications - 18
Citations - 709
Alexandra Pinggera is an academic researcher from Laboratory of Molecular Biology. The author has contributed to research in topics: Voltage-dependent calcium channel & Calcium channel. The author has an hindex of 9, co-authored 17 publications receiving 527 citations. Previous affiliations of Alexandra Pinggera include University of Innsbruck.
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Journal ArticleDOI
L-type Ca 2+ channels in heart and brain
TL;DR: It is important to understand the structure–function relationship of LTCC isoforms, their differential contribution to physiological function, as well as their fine-tuning by modulatory cellular processes.
Journal ArticleDOI
CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.
Alexandra Pinggera,Andreas Lieb,Bruno Benedetti,Michaela Lampert,Stefania Monteleone,Klaus R. Liedl,Petronel Tuluc,Jörg Striessnig +7 more
TL;DR: These data suggest that Cav1.3 gain-of-function mutations confer a major part of the risk for autism in the two probands and may even cause the disease, which has immediate clinical relevance because blockers of LTCCs are available for therapeutic attempts in affected individuals.
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Pharmacology of L-type Calcium Channels: Novel Drugs for Old Targets?
TL;DR: The pathogenetic role of L-type calcium channels, potential new indications for existing or isoform-selective compounds and strategies to minimize potential side effects are discussed.
Journal ArticleDOI
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
Alexandra Pinggera,Luisa Mackenroth,Andreas Rump,Jens Schallner,Filippo Beleggia,Bernd Wollnik,Jörg Striessnig +6 more
TL;DR: The additional presence of seizures and neurological abnormalities in the authors' patient define a novel phenotype partially overlapping with symptoms in two individuals with PASNA caused by similar Cav1.3 gain-of-function mutations, strengthening the evidence for CACNA1D as a novel candidate autism risk gene and encourage experimental therapy with available channel-blockers for this mutation.
Journal ArticleDOI
Cav1.3 (CACNA1D) L‐type Ca2+ channel dysfunction in CNS disorders
TL;DR: Data strongly suggest that CACNA1D mutations enhancing Cav1.3 activity confer a strong risk for – or even cause – CNS disorders, such as ASD.