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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Publié dans:Hum Mol Genet
Auteurs principaux: 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
Langue:Inglês
Publié: Oxford University Press 2015
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Articles
Accès en ligne: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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