Heterologous Expression of Human Vasopressin-Neurophysin Precursors in a Pituitary Cell Line: Defective Transport of a Mutant Protein from Patients with Familial Diabetes Insipidus
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Summary
The results suggest that the mutation within the conserved part of NP alters the conformation of the precursor and thus triggers its retention in the ER.
- Type
- article
- Published
- 1996-11-01
- Cited by
- 54
- References
- 29
- OpenAlex
- https://openalex.org/W8945633
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:44964470
Keywords
Punishment (psychology), Law, Islam, Criminology, Sharia
References
- Provasopressin-neurophysin II processing is cell-specific in heterologous cell lines expressing a metallothionein-vasopressin fusion gene.
- Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.
- A missense mutation in the vasopressin‐neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
- A new technique for the assay of infectivity of human adenovirus 5 DNA.
- Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom.
- Defective protein folding as a basis of human disease.
- Maintained PC1 and PC2 Expression in the AtT-20 Variant Cell Line 6T3 Lacking Regulated Secretion and POMC: Restored POMC Expression and Regulated Secretion after cAMP Treatment
- Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
- Characterization of PC2, a mammalian Kex2 homologue, following expression of the cDNA in microinjected Xenopus oocytes
- Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.
- Intracellular protein trafficking defects in human disease.
- Structure and Expression of the Vasopressin Precursor Gene in Central Diabetes Insipidus a
- Expression of the vasopressin and oxytocin genes in human hypothalami
- Degradation of proteins within the endoplasmic reticulum.
- Two distinct intracellular pathways transport secretory and membrane glycoproteins to the surface of pituitary tumor cells.
- A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.
- The mechanism of Z alpha 1-antitrypsin accumulation in the liver.
- Compartmental organization of the Golgi stack.
- The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line.
- A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.
Cited by
- Glutamate Receptors and Endoplasmic Reticulum Quality Control: Looking beneath the Surface
- Endoplasmic reticulum storage diseases.
- Processing of Frameshifted Vasopressin Precursors
- The human hypothalamo-neurohypophysial system in health and disease.
- Expression of three different mutations in the arginine vasopressin gene suggests genotype–phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds
- Effects of Diabetes Insipidus Mutations on Neurophysin Folding and Function*
- Degradation of Wild-type Vasopressin Precursor and Pathogenic Mutants by the Proteasome*
- Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone.
- A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred
- Genetic models of vasopressin deficiency
- A diabetes insipidus vasopressin prohormone altered outside the central core of neurophysin accumulates in the endoplasmic reticulum.
- A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus.
- A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus.
- Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis
- Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin–neurophysin II gene
- Mutations in the Vasopressin Prohormone Involved in Diabetes Insipidus Impair Endoplasmic Reticulum Export but Not Sorting*
- Endoplasmic reticulum stress and apoptosis contribute to the pathogenesis of dominantly inherited isolated GH deficiency due to GH1 gene splice site mutations.
- A leptin missense mutation associated with hypogonadism and morbid obesity
- Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus.
- Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin‐neurophysin II gene
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