Mechanism of Endoplasmic Reticulum Retention of Mutant Vasopressin Precursor Caused by a Signal Peptide Truncation Associated with Diabetes Insipidus

Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites

1997 • 5,415 citations

A new method for predicting signal sequence cleavage sites

1986 • 4,629 citations

The signal peptide

1990 • 1,096 citations

The mechanism of Z α1-antitrypsin accumulation in the liver

1992 • 1,030 citations

[71] Use of eukaryotic expression technology in the functional analysis of cloned genes

1987 • 834 citations

The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line.

1985 • 335 citations

Translocation of secretory proteins across the microsomal membrane occurs through an environment accessible to aqueous perturbants

1985 • 277 citations

Misfolding and aggregation of newly synthesized proteins in the endoplasmic reticulum.

1992 • 177 citations

Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum.

1997 • 171 citations

α1-Antitrypsin Mmalton (Phe52-deleted) Forms Loop-Sheet Polymers in Vivo.

1995 • 146 citations

The COOH-terminal ends of internal signal and signal-anchor sequences are positioned differently in the ER translocase.

1994 • 146 citations

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

1996 • 146 citations

The membrane-spanning segment of invariant chain (Iγ) contains a potentially cleavable signal sequence

1986 • 142 citations

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.

1991 • 141 citations

Hereditary Idiopathic Diabetes Insipidus

1965 • 134 citations

Purification and Partial Characterization of PAS-Positive Inclusion Bodies from the Liver in Alpha₁-Antitrypsin Deficiency

1975 • 119 citations

Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.

1993 • 105 citations

HEREDITARY AND IDIOPATHIC TYPES OF DIABETES INSIPIDUS

1967 • 104 citations

Crystal structure of the neurophysin—oxytocin complex

1996 • 101 citations

Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland

1991 • 99 citations

Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.

1993 • 96 citations

Genetic Basis of Familial Neurohypophyseal Diabetes Insipidus

1997 • 66 citations

Reassessment of the subcellular localization of p63

1995 • 65 citations

A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus.

1996 • 63 citations

Retention of p63 in an ER-Golgi intermediate compartment depends on the presence of all three of its domains and on its ability to form oligomers.

1994 • 63 citations

Deletion of the amino-terminal domain of asialoglycoprotein receptor H1 allows cleavage of the internal signal sequence.

1988 • 57 citations

Vasopressin function in familial cranial diabetes insipidus

1981 • 55 citations

Heterologous Expression of Human Vasopressin-Neurophysin Precursors in a Pituitary Cell Line: Defective Transport of a Mutant Protein from Patients with Familial Diabetes Insipidus

1996 • 50 citations

Autosomal Dominant Neurohypophyseal Diabetes Insipidus Associated with a Missense Mutation Encoding Gly²³→Val in Neurophysin II¹

1997 • 48 citations

Dermatomyositis und Carcinom

1957 • 44 citations

A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene.

1996 • 41 citations

Radioimmunoassay of vasopressin in familial central diabetes insipidus

1982 • 41 citations

Identification of Mutations of the Arginine Vasopressin-Neurophysin II Gene in Two Kindreds with Familial Central Diabetes Insipidus

1998 • 38 citations

Identification of a Novel Nonsense Mutation and a Missense Substitution in the Vasopressin-Neurophysin II Gene in Two Spanish Kindreds with Familial Neurohypophyseal Diabetes Insipidus

1998 • 35 citations

Über den Diabetes insipidus

1941 • 31 citations

HEREDITARY DIABETES INSIPIDUS: REPORT OF 20 CASES IN SEVEN GENERATIONS*

1955 • 29 citations

Chapter 13 Analysis of Protein Topology in the Endoplasmic Reticulum

1991 • 24 citations

Familial Cranial Diabetes Insipidus: A Report of Five Families. Genetic, Diagnostic and Therapeutic Aspects

1985 • 15 citations

Thermodynamic Role of the Pro Region of the Neurophysin Precursor in Neurophysin Folding: Evidence from the Effects of Ligand Peptides on Folding

1996 • 13 citations

LE DIABÈTE INSIPIDE HÉRÉDITAIRE

1939 • 12 citations