Structure and genetic variants of thyroglobulin: Pathophysiological implications
CE Citterio, CM Rivolta, HM Targovnik - Molecular and cellular …, 2021 - Elsevier
Thyroglobulin (TG) plays a main role in the biosynthesis of thyroid hormones (TH), and, thus,
it is involved in a wide range of vital functions throughout the life cycle of all vertebrates …
it is involved in a wide range of vital functions throughout the life cycle of all vertebrates …
Thyroglobulin from molecular and cellular biology to clinical endocrinology
B Di Jeso, P Arvan - Endocrine reviews, 2016 - academic.oup.com
Thyroglobulin (Tg) is a vertebrate secretory protein synthesized in the thyrocyte endoplasmic
reticulum (ER), where it acquires N-linked glycosylation and conformational maturation …
reticulum (ER), where it acquires N-linked glycosylation and conformational maturation …
The role of thyroglobulin in thyroid hormonogenesis
CE Citterio, HM Targovnik, P Arvan - Nature Reviews Endocrinology, 2019 - nature.com
In humans, the thyroid hormones T3 and T4 are synthesized in the thyroid gland in a
process that crucially involves the iodoglycoprotein thyroglobulin. The overall structure of …
process that crucially involves the iodoglycoprotein thyroglobulin. The overall structure of …
Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19
HM Targovnik, T Edouard, V Varela, M Tauber… - Molecular and cellular …, 2012 - Elsevier
Thyroglobulin (TG) is a homodimeric glycoprotein synthesized by the thyroid gland. To date,
52 mutations of the TG gene have been identified in humans. The purpose of the present …
52 mutations of the TG gene have been identified in humans. The purpose of the present …
Naturally occurring mutations in the thyroglobulin gene
J Vono-Toniolo, CM Rivolta, HM Targovnik… - Thyroid, 2005 - liebertpub.com
Thyroglobulin (Tg) is a large glycoprotein dimer secreted into the follicular lumen. It serves
as the matrix for the synthesis of thyroxine (T4) and triiodothyronine (T3), and the storage of …
as the matrix for the synthesis of thyroxine (T4) and triiodothyronine (T3), and the storage of …
Molecular advances in thyroglobulin disorders
CM Rivolta, HM Targovnik - Clinica Chimica Acta, 2006 - Elsevier
Synthesis of tri-iodothyronine (T3) and thyroxine (T4) follows a metabolic pathway that
depends on the integrity of the thyroglobulin structure. This large glycoprotein is a …
depends on the integrity of the thyroglobulin structure. This large glycoprotein is a …
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c. 7006C> T [p. R2317X] mutation …
GA Machiavelli, M Caputo, CM Rivolta… - Clinical …, 2010 - Wiley Online Library
Background Thyroglobulin (TG) deficiency is an autosomal‐recessive disorder that results in
thyroid dyshormonogenesis. A number of distinct mutations have been identified as causing …
thyroid dyshormonogenesis. A number of distinct mutations have been identified as causing …
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism
CE Citterio, GA Machiavelli, MB Miras… - Molecular and cellular …, 2013 - Elsevier
The thyroglobulin (TG) gene is organized in 48 exons, spanning over 270kb on human
chromosome 8q24. Up to now, 62 inactivating mutations in the TG gene have been …
chromosome 8q24. Up to now, 62 inactivating mutations in the TG gene have been …
The p. A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype …
V Pardo, J Vono-Toniolo, IGS Rubio… - The Journal of …, 2009 - academic.oup.com
Context: Thyroglobulin (TG) is a large glycoprotein and functions as a matrix for thyroid
hormone synthesis. TG gene mutations give rise to goitrous congenital hypothyroidism (CH) …
hormone synthesis. TG gene mutations give rise to goitrous congenital hypothyroidism (CH) …
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene
M Caputo, CM Rivolta, SA Esperante… - Clinical …, 2007 - Wiley Online Library
Context Thyroid dyshormonogenesis is associated with mutations in the thyroglobulin (TG)
gene and characterized by normal organification of iodide and low serum TG. These …
gene and characterized by normal organification of iodide and low serum TG. These …