Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants in AP-4 subunits on intracellular protein trafficki...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Hum Mol Genet
Main Authors: Behne, Robert, Teinert, Julian, Wimmer, Miriam, D’Amore, Angelica, Davies, Alexandra K, Scarrott, Joseph M, Eberhardt, Kathrin, Brechmann, Barbara, Chen, Ivy Pin-Fang, Buttermore, Elizabeth D, Barrett, Lee, Dwyer, Sean, Chen, Teresa, Hirst, Jennifer, Wiesener, Antje, Segal, Devorah, Martinuzzi, Andrea, Duarte, Sofia T, Bennett, James T, Bourinaris, Thomas, Houlden, Henry, Roubertie, Agathe, Santorelli, Filippo M, Robinson, Margaret, Azzouz, Mimoun, Lipton, Jonathan O, Borner, Georg H H, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
Assuntos:
General Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7001721/
https://ncbi.nlm.nih.gov/pubmed/31915823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz310
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares