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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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Bibliografski detalji
Glavni autori: Datta, Rupak, Waheed, Abdul, Shah, Gul N., Sly, William S.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2007
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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