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Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish via Toxic Gain of Function

Joubert syndrome (JBTS) is an inherited autosomal recessive disorder associated with cerebellum and brainstem malformation and can be caused by mutations in the Abelson helper integration site-1 (AHI1) gene. Although AHI1 mutations in humans cause abnormal cerebellar development and impaired axonal...

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Detalles Bibliográficos
Autores principales: Zhu, Louyin, Chen, Laiqiang, Yan, Lingya, Perkins, Brian D., Li, Shihua, Li, Baoming, Xu, Hong A., Li, Xiao-Jiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438259/
https://www.ncbi.nlm.nih.gov/pubmed/30949029
http://dx.doi.org/10.3389/fncel.2019.00081