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...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Brief Communications
Acesso em linha: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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