The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum.
Open accessAbstract
Mutations in the arginine vasopressin (AVP) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus (FNDI). The dominant inheritance pattern has been postulated to reflect neuronal toxicity of the mutant proteins, but the mechanism for such cytotoxicity is unknown. In this study, wild-type or several different mutant AVP genes were stably expressed in neuro2A neuroblastoma cells. When cells were treated with valproic acid to induce neuronal differentiation, each of the mutants caused reduced viability. Metabolic labeling revealed diminished intracellular trafficking of mutant AVP precursors and confirmed inefficient secretion of immunoreactive AVP. Immunofluorescence studies demonstrated marked accumulation of mutant AVP precursors within the endoplasmic reticulum. These studies suggest that the cellular toxicity in FNDI may be caused by the intracellular accumulation of mutant precursor proteins.
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Cites
Synthesis, transport, and release of posterior pituitary hormones
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The Alzheimer's Aβ peptide induces neurodegeneration and apoptotic cell death in transgenic mice
LaFerla, F. M., Tinkle, B. T., Bieberich, C. J., Haudenschild, C. C., & Jay, G. (1995) · Nature Genetics · doi:10.1038/ng0195-21 · Cited by 513
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Cited by
Peyron, C., Faraco, J., Rogers, W., Ripley, B., Overeem, S., Charnay, Y., Nevsimalova, S., Aldrich, M., Reynolds, D., Albin, R., et al. (2000) · Nature Medicine · doi:10.1038/79690 · Cited by 2,118
Endoplasmic Reticulum Stress and the Development of Diabetes
Harding, H. P., & Ron, D. (2002) · Diabetes · doi:10.2337/diabetes.51.2007.s455 · Cited by 465
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Burbach, J. P. H., Luckman, S. M., Murphy, D., & Gainer, H. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.3.1197 · Cited by 340
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MacDonald, K., & Feifel, D. (2013) · Frontiers in Neuroscience · doi:10.3389/fnins.2013.00035 · Cited by 181
Metadata
- Authors
- Ito, M., Jameson, J. L., & Ito, M.
- Venue
- Journal of Clinical Investigation
- Published
- 1997-04-15
- Volume
- 99
- Issue
- 8
- Pages
- 1897-1905
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2048592634
- Cited by
- 172
- References
- 3
- FWCI
- 3.83
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Ito, M., Jameson, J. L., & Ito, M. (1997). Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. Journal of Clinical Investigation. https://doi.org/10.1172/jci119357
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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