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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.

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Metadaten
Author:Júlia Canet PonsORCiD, Ralf SchubertGND, Ruth Pia DückerORCiDGND, Roland SchreweORCiDGND, Sandra Wölke, Martina SchnölzerORCiDGND, Georg AuburgerORCiDGND, Stefan ZielenORCiDGND, Uwe WarnkenORCiDGND
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):License LogoCreative Commons - CC BY-NC-ND - Namensnennung - Nicht kommerziell - Keine Bearbeitungen 4.0 International