Autism-Linked Mutations in α2δ-1 and α2δ-3 Reduce Protein Membrane Expression but Affect Neither Calcium Channels nor Trans-Synaptic Signaling
Our data provide evidence that the pathophysiological mechanisms of ASD-causing mutations of α<sub>2</sub>δ proteins may not involve their classical channel-dependent and trans-synaptic functions. Alternatively, these mutations may induce subtle changes in synapse formation or neuronal network function, highlighting the need for future α<sub>2</sub>δ protein-linked disease models.
Authors
- Sabrin Haddad (ORCID: https://orcid.org/0009-0008-2049-9976)
- Manuel Hessenberger (ORCID: https://orcid.org/0000-0003-3021-1100)
- Gerald J. Obermair (ORCID: https://orcid.org/0000-0003-0005-8563)
- Cornelia Ablinger (ORCID: https://orcid.org/0000-0003-2996-0913)
- Marta Campiglio (ORCID: https://orcid.org/0000-0002-9629-2073)
- Ruslan I. Stanika (ORCID: https://orcid.org/0000-0002-7651-3131)
- Clarissa Eibl (ORCID: https://orcid.org/0000-0001-8248-5133)
Institutions
- Innsbruck Medical University (AT)
- Karl Landsteiner University of Health Sciences (AT)
Publication Details
- Journal
- Pharmaceuticals
- Published
- 2024-11-28
- DOI
- https://doi.org/10.3390/ph17121608
- Citations
- 3
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- Gesellschaft für Forschungsförderung Niederösterreich
- Austrian Science Fund
- Medizinische Universität Innsbruck
- Universität Innsbruck
- Karl Landsteiner Privatuniversität für Gesundheitswissenschaften