High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four subunits of this obligate complex. While the diagnosis of adaptor protein complex 4-associated hereditary spastic paraplegia...

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Detalles Bibliográficos
Autores principales: Ebrahimi-Fakhari, Darius, Alecu, Julian E, Brechmann, Barbara, Ziegler, Marvin, Eberhardt, Kathrin, Jumo, Hellen, D’Amore, Angelica, Habibzadeh, Parham, Faghihi, Mohammad Ali, De Bleecker, Jan L, Vuillaumier-Barrot, Sandrine, Auvin, Stéphane, Santorelli, Filippo M, Neuser, Sonja, Popp, Bernt, Yang, Edward, Barrett, Lee, Davies, Alexandra K, Saffari, Afshin, Hirst, Jennifer, Sahin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8557665/
https://www.ncbi.nlm.nih.gov/pubmed/34729478
http://dx.doi.org/10.1093/braincomms/fcab221

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