Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum

• Hoofdauteurs: Eboni M. V. Bucknor (Auteur), Errin Johnson (Auteur), Stephanie Efthymiou (Auteur), Javeria R. Alvi (Auteur), Tipu Sultan (Auteur), Henry Houlden (Auteur), Reza Maroofian (Auteur), Ehsan G. Karimiani (Auteur), Mattéa J. Finelli (Auteur), Peter L. Oliver (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2024-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Loss-of-function mutations in the TLDc family of proteins cause a range of severe childhood-onset neurological disorders with common clinical features that include cerebellar neurodegeneration, ataxia and epilepsy. Of these proteins, oxidation resistance 1 (OXR1) has been implicated in multiple cell...