Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

Abstract Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP‐4). Using next‐generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discov...

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Bibliographic Details
Main Authors: Angelica D’Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51018

Internet

https://doi.org/10.1002/acn3.51018

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