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dc.contributor.author
Targovnik, Hector Manuel
dc.contributor.author
Scheps, Karen
dc.contributor.author
Rivolta, Carina Marcela
dc.date.available
2020-07-31T20:08:36Z
dc.date.issued
2019-11-18
dc.identifier.citation
Targovnik, Hector Manuel; Scheps, Karen; Rivolta, Carina Marcela; Defects in protein folding in congenital hypothyroidism; Elsevier Ireland; Molecular and Cellular Endocrinology; 501; 18-11-2019; 1-21; 110638
dc.identifier.issn
0303-7207
dc.identifier.uri
http://hdl.handle.net/11336/110685
dc.description.abstract
Primary congenital hypothyroidism (CH) is the most commonendocrine disease in children and one of the most common preventablecauses of both cognitive and motor deficits. CH is a heterogeneous groupof thyroid disorders in which inadequate production of thyroid hormoneoccurs due to defects in proteins involved in the gland organogenesis(dysembryogenesis) or in multiple steps of thyroid hormone biosynthesis(dyshormonogenesis). Dysembryogenesis is associated with genesresponsible for the development or growth of thyroid cells: such as NKX2-1, FOXE1, PAX8, NKX2-5, TSHR, TBX1, CDCA8, HOXD3 and HOXB3 resulting inagenesis, hypoplasia or ectopia of thyroid gland. Nevertheless, theetiology of the dysembryogenesis remains unknown for most cases. Incontrast, the majority of patients with dyshormonogenesis has been linkedto mutations in the SLC5A5, SLC26A4, SLC26A7, TPO, DUOX1, DUOX2, DUOXA1,DUOXA2, IYD or TG genes, which usually originate goiter.About 800 genetic mutations have been reported to cause CH in patients sofar, including missense, nonsense, in-frame deletion and splice-sitevariations. Many of these mutations are implicated in specific domains,cysteine residues or glycosylation sites, affecting the maturation ofnascent proteins that go through the secretory pathway. Consequently,misfolded proteins are permanently entrapped in the endoplasmic reticulum(ER) and are translocated to the cytosol for proteasomal degradation bythe ER- associated degradation (ERAD) machinery.Despite of all these remarkable advances in the field of the CHpathogenesis, several points on the development of this disease remain tobe elucidated. The continuous study of thyroid gene mutations with theapplication of new technologies will be useful for the understanding ofthe intrinsic mechanisms related to CH. In this review we summarize thepresent status of knowledge on the disorders in the protein foldingcaused by thyroid genes mutations.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier Ireland
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
THYROID GENES
dc.subject
PROTEIN FOLDING
dc.subject
ERAD
dc.subject
CONGENITAL HYPOTHYROIDISM
dc.subject.classification
Genética Humana
dc.subject.classification
Medicina Básica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Defects in protein folding in congenital hypothyroidism
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-04-24T17:45:05Z
dc.journal.volume
501
dc.journal.pagination
1-21; 110638
dc.journal.pais
Países Bajos
dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina
dc.description.fil
Fil: Scheps, Karen. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina
dc.description.fil
Fil: Rivolta, Carina Marcela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina
dc.journal.title
Molecular and Cellular Endocrinology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0303720719303405
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1016/j.mce.2019.110638
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