Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia.

ABSTRACT: Hereditary spastic paraplegias (HSPs) are a group of inherited, progressive neurodegenerative conditions characterised by prominent lower-limb spasticity and weakness, caused by a length-dependent degeneration of the longest corticospinal upper motor neurons. While more than 80 spastic paraplegia genes (SPGs) have been identified, many cases arise from mutations in genes encoding proteins which generate and maintain tubular endoplasmic reticulum (ER) membrane organisation. The ER-shaping proteins are essential for the health and survival of long motor neurons, however the mechanisms by which mutations in these genes cause the axonopathy observed in HSP have not been elucidated. To further develop our understanding of the ER-shaping proteins, this study outlines the generation of novel in v

SUBMITTER: Byrne DJ 

PROVIDER: S-EPMC8961908 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature