KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses

Lysosomes are central organelles for cellular degradation and energy metabolism. Neuronal ceroid lipofuscinoses (NCLs) are a group of the most common neurodegenerative lysosomal storage disorders characterized by intracellular accumulation of ceroid in neurons. Mutations in KCTD7, a gene encoding an...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Yalan, Cao, Xiaotong, Liu, Pei, Zeng, Weijia, Peng, Rui, Shi, Qing, Feng, Kai, Zhang, Pingzhao, Sun, Huiru, Wang, Chenji, Wang, Hongyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9348797/
https://www.ncbi.nlm.nih.gov/pubmed/35921411
http://dx.doi.org/10.1126/sciadv.abm5578

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9348797/
https://www.ncbi.nlm.nih.gov/pubmed/35921411
http://dx.doi.org/10.1126/sciadv.abm5578

Ejemplares similares