ArticleThe Journal of clinical investigation1996
Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.
Article in The Journal of clinical investigation, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 132 citations in OpenAlex.
- Defective Thyroglobulin: Cell Biology of Disease.International journal of molecular sciences · 2022Review
- Perfluorooctanoic Acid Affects Thyroid Follicles in Common Carp (International journal of environmental research and public health · 2022Article
- A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean InfantJournal of clinical research in pediatric endocrinology · 2022Article
- Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death.JCI insight · 2021Article
- Resveratrol Alleviates the Inhibitory Effect of Tunicamycin-Induced Endoplasmic Reticulum Stress on Expression of Genes Involved in Thyroid Hormone Synthesis in FRTL-5 Thyrocytes.International journal of molecular sciences · 2021Article
- Thyroglobulin Interactome Profiling Defines Altered Proteostasis Topology Associated With Thyroid Dyshormonogenesis.Molecular & cellular proteomics : MCP · 2021Article
- Thyrocyte cell survival and adaptation to chronic endoplasmic reticulum stress due to misfolded thyroglobulin.The Journal of biological chemistry · 2020Article
- Chaperoning Endoplasmic Reticulum-Associated Degradation (ERAD) and Protein Conformational Diseases.Cold Spring Harbor perspectives in biology · 2019Review
- Clinical genetics of defects in thyroid hormone synthesis.Annals of pediatric endocrinology & metabolism · 2018Article
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- Endoplasmic reticulum stress as a novel mechanism in amiodarone-induced destructive thyroiditis.The Journal of clinical endocrinology and metabolism · 2015Article
- Interaction between thyroglobulin and ADAMTS16 in premature ovarian failure.Clinical and experimental reproductive medicine · 2014Article
- Iodide transport: implications for health and disease.International journal of pediatric endocrinology · 2014Article
- Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene.European journal of pediatrics · 2013Article
- Organelle targeting: third level of drug targeting.Drug design, development and therapy · 2013Review
- Electromagnetic fields at 2.45 GHz trigger changes in heat shock proteins 90 and 70 without altering apoptotic activity in rat thyroid gland.Biology open · 2012Article
- New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.The Journal of clinical endocrinology and metabolism · 2010Article
- Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter.Molecular endocrinology (Baltimore, Md.) · 2008Article
- Protein quality control: the who's who, the where's and therapeutic escapes.Histochemistry and cell biology · 2008Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Recent advances in understanding the molecular pathogenesis of congenital hypothyroid goiter in cog/cog mice, have raised important questions concerning the maturation of thyroglobulin (the thyroid prohormone) in certain human kindreds with congenital goiter. We have now examined affected siblings from two unrelated families that synthesize an apparently normally glycosylated, > 300 kD immunoreactive thyroglobulin, yet have a reduced quantity of intraglandular thyroglobulin and that secreted into the circulation. From thyroid tissues of the four patients, light microscopic approaches demonstrated presence of intracellular thyroglobulin despite its absence in thyroid follicle lumina, while electron microscopy indicated abnormal distention of the endoplasmic reticulum (ER). We have confirmed biochemically that most intrathyroidal thyroglobulin fails to reach the (Golgi) compartment where complex carbohydrate modification takes place. Moreover, the disease in the affected patients is associated with massive induction of specific ER molecular chaperones including the hsp90 homolog, GRP94, and the hsp70 homolog, BiP. The data suggest that these patients synthesize a mutant thyroglobulin which is defective for folding/assembly, leading to a markedly reduced ability to export the protein from the ER. Thus, these kindreds suffer from a thyroid ER storage disease, a cell biological defect phenotypically indistinguishable from that found in cog/cog mice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.