ArticleThe Journal of clinical investigation2003
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.
Article in The Journal of clinical investigation, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 86 citations in OpenAlex.
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- Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Investigation of Fibrillar Aggregates Formed by Pathogenic Pre-pro-vasopressin Mutants that Cause ADNDI.The Journal of clinical endocrinology and metabolism · 2025Article
- A transgenic mouse line for rabies virus-mediated trans-synaptic tracing in the postnatal developing brain.PloS one · 2025Article
- Functional analyses of three different mutations in the AVP-NPII gene causing familial neurohypophyseal diabetes insipidus.Endocrine · 2021Article
- Deficiency of WFS1 leads to the impairment of AVP secretion under dehydration in male mice.Pituitary · 2021Article
- Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.Pituitary · 2021Article
- Lessons from animal models of endocrine disorders caused by defects of protein folding in the secretory pathway.Molecular and cellular endocrinology · 2020Review
- Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.Physiological reviews · 2018Review
- Oxytocin signaling in the medial amygdala is required for sex discrimination of social cues.eLife · 2017Article
- ER-associated degradation is required for vasopressin prohormone processing and systemic water homeostasis.The Journal of clinical investigation · 2017Article
- Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus.The Journal of clinical investigation · 2017Article
- Amyloid-like aggregation of provasopressin in diabetes insipidus and secretory granule sorting.BMC biology · 2017Article
- A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus.Journal of endocrinological investigation · 2016Article
- AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus.Pituitary · 2015Article
- Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.Endocrine reviews · 2013Review
- Article
- Central diabetes insipidus associated with impaired renal aquaporin-1 expression in mice lacking liver X receptor β.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Familial forms of diabetes insipidus: clinical and molecular characteristics.Nature reviews. Endocrinology · 2011Review
- Misfolding of Mutated Vasopressin Causes ER-Retention and Activation of ER-Stress Markers in Neuro-2a Cells.Open neuroendocrinology journal (Online) · 2011Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disorder caused by mutations in the arginine vasopressin (AVP) precursor. The pathogenesis of FNDI is proposed to involve mutant protein-induced loss of AVP-producing neurons. We established murine knock-in models of two different naturally occurring human mutations that cause FNDI. A mutation in the AVP signal sequence [A(-1)T] is associated with a relatively mild phenotype or delayed presentation in humans. This mutation caused no apparent phenotype in mice. In contrast, heterozygous mice expressing a mutation that truncates the AVP precursor (C67X) exhibited polyuria and polydipsia by 2 months of age and these features of DI progressively worsened with age. Studies of the paraventricular and supraoptic nuclei revealed induction of the chaperone protein BiP and progressive loss of AVP-producing neurons relative to oxytocin-producing neurons. In addition, Avp gene products were not detected in the neuronal projections, suggesting retention of WT and mutant AVP precursors within the cell bodies. In summary, this murine model of FNDI recapitulates many features of the human disorder and demonstrates that expression of the mutant AVP precursor leads to progressive neuronal cell loss.
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