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

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...

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Bibliographic Details
Main Authors: Bucknor, EMV, Johnson, E, Efthymiou, S, Alvi, JR, Sultan, T, Houlden, H, Maroofian, R, Karimiani, EG, Finelli, MJ, Oliver, PL
Format: Journal article
Language:English
Published: MDPI 2024