Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins
M Ito, NY Richard, JL Jameson, M Ito - Journal of Biological Chemistry, 1999 - ASBMB
Autosomal dominant familial neurohypophyseal diabetes insipidus is caused by mutations
in the arginine vasopressin (AVP) gene. We demonstrated recently that mutant AVP
precursors accumulate within the endoplasmic reticulum of neuronal cells, leading to
cellular toxicity. In this study, the possibility that mutant AVP precursors interact with wild-
type (WT) proteins to alter their processing and function was explored. WT and mutant
precursors were epitope-tagged to allow them to be distinguished in transfected cells. An in …
in the arginine vasopressin (AVP) gene. We demonstrated recently that mutant AVP
precursors accumulate within the endoplasmic reticulum of neuronal cells, leading to
cellular toxicity. In this study, the possibility that mutant AVP precursors interact with wild-
type (WT) proteins to alter their processing and function was explored. WT and mutant
precursors were epitope-tagged to allow them to be distinguished in transfected cells. An in …
