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 …

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 …

Protein disulfide isomerase in redox cell signaling and homeostasis

FRM Laurindo, LA Pescatore… - Free Radical Biology and …, 2012 - Elsevier
Thiol proteins may potentially act as redox signaling adaptor proteins, adjusting reactive
oxygen species intermediates to specific signals and redox signals to cell homeostasis. In …

The burden of trisomy 21 disrupts the proteostasis network in Down syndrome

S Aivazidis, CM Coughlan, AK Rauniyar, H Jiang… - Plos one, 2017 - journals.plos.org
Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21.
Abnormalities in chromosome number have the potential to lead to disruption of the …

Defects in protein folding in congenital hypothyroidism

HM Targovnik, KG Scheps, CM Rivolta - Molecular and cellular …, 2020 - Elsevier
Primary congenital hypothyroidism (CH) is the most common endocrine disease in children
and one of the most common preventable causes of both cognitive and motor deficits. CH is …

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

HM Targovnik, SA Esperante, CM Rivolta - Molecular and cellular …, 2010 - Elsevier
Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of
approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype …

Thyroglobulin interactome profiling defines altered proteostasis topology associated with thyroid dyshormonogenesis

MT Wright, L Kouba, L Plate - Molecular & Cellular Proteomics, 2021 - ASBMB
Thyroglobulin (Tg) is a secreted iodoglycoprotein serving as the precursor for
triiodothyronine and thyroxine hormones. Many characterized Tg gene mutations produce …

High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations

A Hishinuma, S Fukata, K Kakudo, Y Murata, T Ieiri - Thyroid, 2005 - liebertpub.com
In this paper, we report the high prevalence of thyroid malignancy in patients with
thyroglobulin mutations in Japan. Mutations of the thyroglobulin gene cause defective …

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 …

Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract

Z Firtina, BP Danysh, X Bai, DB Gould… - Journal of biological …, 2009 - ASBMB
Human diseases caused by mutations in extracellular matrix genes are often associated
with an increased risk of cataract and lens capsular rupture. However, the underlying …