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

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 discovered vari...

詳細記述

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書誌詳細
出版年:Ann Clin Transl Neurol
主要な著者: D’Amore, Angelica, Tessa, Alessandra, Naef, Valentina, Bassi, Maria Teresa, Citterio, Andrea, Romaniello, Romina, Fichi, Gianluca, Galatolo, Daniele, Mero, Serena, Battini, Roberta, Bertocci, Giulia, Baldacci, Jacopo, Sicca, Federico, Gemignani, Federica, Ricca, Ivana, Rubegni, Anna, Hirst, Jennifer, Marchese, Maria, Sahin, Mustafa, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
Brief Communications
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187712/
https://ncbi.nlm.nih.gov/pubmed/32216065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51018
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