[HTML][HTML] Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting
M Nijenhuis, R Zalm, JPH Burbach - Journal of Biological Chemistry, 1999 - ASBMB
Familial neurohypophysial diabetes insipidus is characterized by vasopressin deficiency
caused by heterozygous expression of a mutated vasopressin prohormone gene. To
elucidate the mechanism of this disease, we stably expressed five vasopressin
prohormones with a mutation in the neurophysin moiety (NP14G→ R, NP47E→ G, NP47ΔE,
NP57G→ S, and NP65G→ V) in the neuroendocrine cell lines Neuro-2A and PC12/PC2.
Metabolic labeling demonstrated that processing and secretion of all five mutants was …
caused by heterozygous expression of a mutated vasopressin prohormone gene. To
elucidate the mechanism of this disease, we stably expressed five vasopressin
prohormones with a mutation in the neurophysin moiety (NP14G→ R, NP47E→ G, NP47ΔE,
NP57G→ S, and NP65G→ V) in the neuroendocrine cell lines Neuro-2A and PC12/PC2.
Metabolic labeling demonstrated that processing and secretion of all five mutants was …