Ubiquitin-associated protein 1 gene mutations in hereditary spastic paraplegias

Takeaway

  • Mutations in the ubiquitin-associated protein 1 (UBAP1) gene, identified in multiple families with hereditary spastic paraplegias (HSP), cause dysfunction in early endosome processing and ubiquitinated protein sorting.

Why this matters

  • This study indicates UBAP1 gene mutations contribute to some cases of HSP and further characterizes the diverse pathophysiology underlying HSP.