Cargando…
The G215R Mutation in the Cl(−)/H(+)-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect
BACKGROUND: ClC-7 is a ubiquitous transporter which is broadly expressed in mammalian tissues. It is implied in the pathogenesis of lysosomal storage disease and osteopetrosis. Because of its endosomal/lysosomal localization it is still poorly characterized. METHODOLOGY/PRINCIPAL FINDINGS: An electr...
| Autores principales: | , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2010
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935355/ https://www.ncbi.nlm.nih.gov/pubmed/20830208 http://dx.doi.org/10.1371/journal.pone.0012585 |