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...

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Detalles Bibliográficos
Autores principales: Schulz, Patrick, Werner, Johannes, Stauber, Tobias, Henriksen, Kim, Fendler, Klaus
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
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

Internet

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

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