Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome
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DOI: 10.1371/journal.pgen.1007363
Abstract: The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb spasticity. Mutations in subunits of the heterotetrameric (ε-β4-μ4-σ4) adaptor protein 4 (AP-4) complex cause an autosomal… read more here.
Keywords: model deficiency; deficiency syndrome; limb spasticity; deficiency ... See more keywords