Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

CLN3 disease is a lysosomal storage disorder associated with fatal neurodegeneration that is caused by mutations in CLN3, with most affected individuals carrying at least one allele with a 966 bp deletion. Using CRISPR/Cas9, we corrected the 966 bp deletion mutation in human induced pluripotent stem...

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Detalles Bibliográficos
Autores principales: Chear, Sueanne, Perry, Sharn, Wilson, Richard, Bindoff, Aidan, Talbot, Jana, Ware, Tyson L., Grubman, Alexandra, Vickers, James C., Pébay, Alice, Ruddle, Jonathan B., King, Anna E., Hewitt, Alex W., Cook, Anthony L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655821/
https://www.ncbi.nlm.nih.gov/pubmed/36453132
http://dx.doi.org/10.1242/dmm.049651

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655821/
https://www.ncbi.nlm.nih.gov/pubmed/36453132
http://dx.doi.org/10.1242/dmm.049651

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