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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...

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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

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