Article
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Proceedings of the National Academy of Sciences of the United States of America - 21 Feb 2023
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
Abstract excerpt
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 families who presented during infancy with symptomatic hypocalcemia were found to have a homozygous serine (S) to proline...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.