Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

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 recessive form of complicated...

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Détails bibliographiques
Publié dans:PLoS Genet
Auteurs principaux: De Pace, Raffaella, Skirzewski, Miguel, Damme, Markus, Mattera, Rafael, Mercurio, Jeffrey, Foster, Arianne M., Cuitino, Loreto, Jarnik, Michal, Hoffmann, Victoria, Morris, H. Douglas, Han, Tae-Un, Mancini, Grazia M. S., Buonanno, Andrés, Bonifacino, Juan S.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2018
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5940238/
https://ncbi.nlm.nih.gov/pubmed/29698489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007363
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