Article
Mutation-specific cellular mechanisms in Drosophila models of ATL1-associated hereditary spastic paraplegia.
Neurobiology of disease - 1 Sept 2026
Cadoria Emma, Sohail Anood, Kennedy Breandan N, Blackstone Craig, O'Sullivan Niamh C
Abstract excerpt
Mutations in ATL1 are a frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), yet patients display a wide range of clinical severity, from slowly progressive "pure" to severe, early-onset "complex" forms. The cellular mechanisms underlying this heterogeneity remain poorly defined, and mammalian model systems have thus far failed to distinguish between these subtypes. This study investigates...
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