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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Pubblicato in:Hum Mol Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2015
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Accesso online: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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