In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells

Mutations in the IQ calmodulin-binding motif containing B1 (IQCB1)/NPHP5 gene encoding the ciliary protein nephrocystin 5 cause early-onset blinding disease Leber congenital amaurosis (LCA), together with kidney dysfunction in Senior-Løken syndrome. For in vitro disease modeling, we obtained dermal...

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Detalles Bibliográficos
Autores principales: Kruczek, Kamil, Qu, Zepeng, Welby, Emily, Shimada, Hiroko, Hiriyanna, Suja, English, Milton A., Zein, Wadih M., Brooks, Brian P., Swaroop, Anand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561628/
https://www.ncbi.nlm.nih.gov/pubmed/36084637
http://dx.doi.org/10.1016/j.stemcr.2022.08.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561628/
https://www.ncbi.nlm.nih.gov/pubmed/36084637
http://dx.doi.org/10.1016/j.stemcr.2022.08.006

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