Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease

Purkinje cell (PC) loss occurs at an early age in patients and animal models of Niemann-Pick Type C (NPC), a lysosomal storage disease caused by mutations in the Npc1 or Npc2 genes. Although degeneration of PCs occurs early in NPC, little is known about how NPC1 deficiency affects the postnatal deve...

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Detalles Bibliográficos
Autores principales: Kim, Sarah, Ochoa, Kathleen, Melli, Sierra E., Yousufzai, Fawad A. K., Barrera, Zerian D., Williams, Aela A., McIntyre, Gianna, Delgado, Esteban, Bolish, James N., Macleod, Collin M., Boghos, Mary, Lens, Hayden P., Ramos, Alex G., Wilson, Vincent B., Maloney, Kelly, Padron, Zachary M., Khan, Amaal H., Blanco, Rosa E., Soto, Ileana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10079843/
https://www.ncbi.nlm.nih.gov/pubmed/37024714
http://dx.doi.org/10.1038/s41598-023-32971-0

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