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Advanced filters: Author: Adele Finardi Clear advanced filters

  • Franco Taroni and colleagues report the identification of mutations in AFG3L2 that cause dominant spinocerebellar ataxia type 28. Along with paraplegin, AFG3L2 forms a protein complex with ATPase and metalloprotease activities and functions in the maintenance of the mitochondrial proteome.

    • Daniela Di Bella
    • Federico Lazzaro
    • Franco Taroni
    Research
    Nature Genetics
    Volume: 42, P: 313-321