Ataxia Telangiectasia triggers deficits in Reelin pathway
- Autosomal recessive Ataxia Telangiectasia (A-T) is characterized by radiosensitivity, immunodeficiency and cerebellar neurodegeneration. A-T is caused by inactivating mutations in the Ataxia-Telangiectasia-Mutated (ATM) gene, a serine-threonine protein kinase involved in DNA-damage response and excitatory neurotransmission. The selective vulnerability of cerebellar Purkinje neurons (PN) to A-T is not well understood.
Author: | Júlia Canet PonsORCiD, Ralf SchubertGND, Ruth Pia DückerORCiDGND, Roland SchreweORCiDGND, Sandra Wölke, Martina SchnölzerORCiDGND, Georg AuburgerORCiDGND, Stefan ZielenORCiDGND, Uwe WarnkenORCiDGND |
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URN: | urn:nbn:de:hebis:30:3-724830 |
DOI: | https://doi.org/10.1101/336842 |
Parent Title (English): | bioRxiv |
Document Type: | Preprint |
Language: | English |
Date of Publication (online): | 2018/06/02 |
Date of first Publication: | 2018/06/02 |
Publishing Institution: | Universitätsbibliothek Johann Christian Senckenberg |
Release Date: | 2023/06/15 |
Issue: | 336842 |
Page Number: | 41 |
HeBIS-PPN: | 509395872 |
Institutes: | Medizin |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Sammlungen: | Universitätspublikationen |
Licence (German): | Creative Commons - CC BY-NC-ND - Namensnennung - Nicht kommerziell - Keine Bearbeitungen 4.0 International |