Učitavanje...
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone
Autosomal dominant familial isolated hypoparathyroidism (AD-FIH) is caused by a Cys → Arg mutation (C18R) in the hydrophobic core of the signal peptide of human preproparathyroid hormone (PPTH). Although this mutation impairs secretion of the hormone, the mechanism by which one mutant allele produce...
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| Glavni autori: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
2007
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2148410/ https://ncbi.nlm.nih.gov/pubmed/18056632 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0708725104 |
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