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Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58(IPK)

Mutations in the human carbonic anhydrase IV (hCAIV) have been associated with retinal degeneration in an autosomal-dominant form of retinitis pigmentosa (RP17). Prior in vitro cell culture studies confirmed that all of the RP17-associated hCAIV mutations cause protein misfolding, leading to endopla...

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Detalhes bibliográficos
Main Authors: Datta, Rupak, Shah, Gul N., Rubbelke, Timothy S., Waheed, Abdul, Rauchman, Michael, Goodman, Alan G., Katze, Michael G., Sly, William S.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2851997/
https://ncbi.nlm.nih.gov/pubmed/20308551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1001905107
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