Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone

Like other secreted peptides, nascent parathyroid hormone (PTH) is synthesized with a pre- and a pro-sequence (25 and 6 amino acids, respectively). These precursor segments are sequentially removed in parathyroid cells before packaging into secretory granules. Three patients from two unrelated famil...

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Detalles Bibliográficos
Autores principales: Hanna, Patrick, Khatri, Ashok, Choi, Shawn, Brabant, Severine, Gild, Matti L., Piketty, Marie L., Francou, Bruno, Prié, Dominique, Potts, John T., Clifton-Bligh, Roderick J., Linglart, Agnès, Gardella, Thomas J., Jüppner, Harald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9974466/
https://www.ncbi.nlm.nih.gov/pubmed/36795755
http://dx.doi.org/10.1073/pnas.2208047120

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