Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3.
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, severe neurodegenerative disorders also known as Batten disease. Juvenile NCL (JNCL) is caused by recessive loss-of-function mutations in CLN3, which encodes a transmembrane protein that regulates endocytic pathway trafficking, thoug...
Guardado en:
Autores principales: | Robert J Huber, Michael A Myre, Susan L Cotman |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2014
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Materias: | |
Acceso en línea: | https://doaj.org/article/8e771adcc3de477dbb5616cd9d6d1b81 |
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