Article
Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment
18 Jan 2025
Abstract excerpt
Hereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex form of HSP caused by deleterious variants in the SPG11 gene, which encodes the spatacsin protein. Previous studies have described several potential roles for spatacsin, including its involvement in lysosome and autophagy...
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