Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

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 lev...

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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
Teme:
Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4527494/
https://ncbi.nlm.nih.gov/pubmed/26085577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv220
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