A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 10, 1999, Pages 3792-3796

  Sunthornthepvarakul, Thongkum ^a   Churesigaew, Sunchai ^b   Ngowngarmratana, Supunnee ^a  

^a RAJAVITHI HOSPITAL   (Thailand)

^b QUEEN SIRIKIT NATIONAL INSTITUTE OF CHILD HEALTH   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; HORMONE PRECURSOR; PARATHYROID HORMONE; PHOSPHATE; SIGNAL PEPTIDE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CALCIUM BLOOD LEVEL; CASE REPORT; CONSANGUINEOUS MARRIAGE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; NEWBORN; PRIORITY JOURNAL; SEIZURE;

EID: 0033304560     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.10.3792     Document Type: Article

References (23)

1. Human parathyroid hormone gene (PTH) is on short arm of chromosome 11
2. Parathyroid hormone: Biochemical aspects of biosynthesis, secretion, action, and metabolism
3. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
4. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
5. A new method for predicting signal sequence cleavage sites
6. Secretory protein translocation across membrane - The role of the 'docking protein'
7. Protein transport across the ER membrane
8. Microtubule-dependent retrograde transport of proteins into the ER in the presence of brefeldin A suggests an ER recycling pathway
9. Signal sequences: The limits of variation
10. A putative signal peptidase recognition site and sequence in eukaryotic and prokaryotic signal peptides
11. Translocation of proteins across the endoplasmic reticulum. III. Signal recognition protein (SRP) causes signal sequence-dependent and site-specific arrest of chain elongation that is released by microsomal membranes
12. Patterns of amino acids near signal-sequence cleavage sites
13. An internal signal sequence: The asialoglycoprotein receptor membrane anchor
14. Processing mechanisms in the biosynthesis of proteins
15. Structural requirement at the cleavage site for efficient processing of the lipoprotein secretory precursor of Escherichia coli
16. A deletion that includes the signal peptidase cleavage site impairs processing, glycosylation, and secretion of cell surface yeast acid phosphatase
17. Mutations in signal sequence cleavage domain of preproparathyroid hormone alter protein translocation, signal sequence cleavage, and membrane-binding properties
18. Protein degradation in the endoplasmic reticulum
19. Transport of an uncleaved preprotein into the endoplasmic reticulum of rat pituitary cells
20. Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus
21. Factor X(Santo Domingo): Evidence that the severe clinical phenotype arises from a mutation blocking secretion
22. Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum
23. Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein