Parathyroid development and the role of tubulin chaperone E
- PMID: 17008776
- DOI: 10.1159/000095944
Parathyroid development and the role of tubulin chaperone E
Abstract
The development of the parathyroid glands involves complex embryonic processes of cell-specific differentiation and migration of the glands from their sites of origin in the pharynx and pharyngeal pouches to their final positions along the ventral midline of the pharyngeal and upper thoracic region. The recognition of several distinct genetic forms of isolated and syndromic hypoparathyroidism led us to review the recent findings on the molecular mechanisms of the development of the parathyroid glands. Although far from being understood, a special emphasis was given to the possible role of tubulin chaperone E (TBCE), which was implicated in the pathogenesis of the hypopathyroidism, retardation and dysmorphism (HRD) syndrome. The novel finding that TBCE plays a critical role in the formation of the parathyroid opens a novel domain of research, not anticipated previously, into the complex process of parathyroid development.
Copyright (c) 2007 S. Karger AG, Basel.
Similar articles
-
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21. Nat Genet. 2002. PMID: 12389028
-
Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD.Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13491-6. doi: 10.1073/pnas.0602798103. Epub 2006 Aug 28. Proc Natl Acad Sci U S A. 2006. PMID: 16938882 Free PMC article.
-
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.Am J Med Genet A. 2018 Aug;176(8):1768-1772. doi: 10.1002/ajmg.a.38851. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055029
-
Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.Ann N Y Acad Sci. 2011 Nov;1237:24-38. doi: 10.1111/j.1749-6632.2011.06221.x. Ann N Y Acad Sci. 2011. PMID: 22082362 Review.
-
Genetic Disorders of Parathyroid Development and Function.Endocrinol Metab Clin North Am. 2018 Dec;47(4):809-823. doi: 10.1016/j.ecl.2018.07.007. Epub 2018 Oct 12. Endocrinol Metab Clin North Am. 2018. PMID: 30390815 Free PMC article. Review.
Cited by
-
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.J Pediatr (Rio J). 2020 Jan-Feb;96(1):60-65. doi: 10.1016/j.jped.2018.07.005. Epub 2018 Aug 4. J Pediatr (Rio J). 2020. PMID: 30080992 Free PMC article.
-
Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.J Appl Genet. 2025 May;66(2):363-373. doi: 10.1007/s13353-024-00894-9. Epub 2024 Aug 17. J Appl Genet. 2025. PMID: 39153170 Free PMC article.
-
FAM111A is dispensable for electrolyte homeostasis in mice.Sci Rep. 2022 Jun 17;12(1):10211. doi: 10.1038/s41598-022-14054-8. Sci Rep. 2022. PMID: 35715480 Free PMC article.
-
Progressive motor neuronopathy: a critical role of the tubulin chaperone TBCE in axonal tubulin routing from the Golgi apparatus.J Neurosci. 2007 Aug 15;27(33):8779-89. doi: 10.1523/JNEUROSCI.1599-07.2007. J Neurosci. 2007. PMID: 17699660 Free PMC article.
-
Sanjad-Sakati Syndrome Revealed by Hypocalcemic Convulsions.Cureus. 2024 Aug 8;16(8):e66429. doi: 10.7759/cureus.66429. eCollection 2024 Aug. Cureus. 2024. PMID: 39246904 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources