Loss of Christianson Syndrome Na(+)/H(+) Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons

Loss-of-function mutations in endosomal Na(+)/H(+) exchanger 6 (NHE6) cause the X-linked neurologic disorder Christianson syndrome. Patients exhibit symptoms associated with both neurodevelopmental and neurodegenerative abnormalities. While loss of NHE6 has been shown to overacidify the endosome lum...

Descripción completa

Detalles Bibliográficos
Autores principales: Pescosolido, Matthew F., Ouyang, Qing, Liu, Judy S., Morrow, Eric M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Neuroscience 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570832/
https://www.ncbi.nlm.nih.gov/pubmed/34526390
http://dx.doi.org/10.1523/JNEUROSCI.1244-20.2021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570832/
https://www.ncbi.nlm.nih.gov/pubmed/34526390
http://dx.doi.org/10.1523/JNEUROSCI.1244-20.2021

Ejemplares similares