Article
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Human molecular genetics - 1 Sept 2015
Hirst Jennifer, Edgar James R, Esteves Typhaine, Darios Frédéric, Madeo Marianna, Chang Jaerak, Roda Ricardo H, Dürr Alexandra, Anheim Mathieu, Gellera Cinzia, Li Jun, Züchner Stephan, Mariotti Caterina, Stevanin Giovanni, Blackstone Craig, Kruer Michael C, Robinson Margaret S
Abstract excerpt
Adaptor proteins (AP 1-5) are heterotetrameric complexes that facilitate specialized cargo sorting in vesicular-mediated trafficking. Mutations in AP5Z1, encoding a subunit of the AP-5 complex, have been reported to cause hereditary spastic paraplegia (HSP), although their impact at the cellular level has not been assessed. Here we characterize three independent fibroblast lines derived from skin biopsies of...
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