Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology

Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in body fluids. Neonatal or infantile onset seizu...

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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Zabinyakov, Nikita, Bullivant, Garrett, Cao, Feng, Fernandez Ojeda, Matilde, Jia, Zheng Ping, Wen, Xiao-Yan, Dowling, James J., Salomons, Gajja S., Mercimek-Andrews, Saadet
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5650160/
https://ncbi.nlm.nih.gov/pubmed/29053735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0186645
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