The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

Article Multidisciplinary Sciences

Cryo-EM structure of native human thyroglobulin

Ricardo Adaixo et al.

Summary: This study presents the cryo-electron microscopy structure of native and fully glycosylated hTG from healthy thyroid glands, providing insights into thyroid hormonogenesis and glycosylation sites.

NATURE COMMUNICATIONS (2022)

添加到收藏夹

Article Multidisciplinary Sciences

Formation of thyroid hormone revealed by a cryo-EM structure of native bovine thyroglobulin

Nils Marechal et al.

Summary: Thyroid hormones play vital roles in metabolism, development, and growth, but the process of their formation is still poorly understood. By analyzing the cryo-EM structure of native bovine thyroglobulin, scientists have identified local structural rearrangements during the formation of nascent thyroid hormones, providing insights into the mechanisms underlying hormone formation and stabilization.

NATURE COMMUNICATIONS (2022)

添加到收藏夹

Article Biochemical Research Methods

Thyroglobulin Interactome Profiling Defines Altered Proteostasis Topology Associated With Thyroid Dyshormonogenesis

Madison T. Wright et al.

Summary: Thyroglobulin (Tg) gene mutations lead to defects in Tg protein processing and secretion, often associated with abnormalities in protein homeostasis network interactions. Modulating dysregulated proteostasis components and pathways may serve as a therapeutic strategy to restore Tg secretion and thyroid hormone biosynthesis.

MOLECULAR & CELLULAR PROTEOMICS (2021)

添加到收藏夹

Article Endocrinology & Metabolism

Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

Paul van Trotsenburg et al.

Summary: The updated guidelines provide recommendations on neonatal screening, diagnosis, treatment, and follow-up of children with congenital hypothyroidism. It emphasizes the immediate start of levothyroxine treatment, regular follow-up, monitoring of thyroid hormone levels, neurodevelopment assessment, and proper transition of care. Further studies are needed to understand the rising incidence of this condition.

THYROID (2021)

添加到收藏夹

Article Cell Biology

Structure and genetic variants of thyroglobulin: Pathophysiological implications

Cintia E. Citterio et al.

Summary: Thyroglobulin plays a crucial role in thyroid hormone biosynthesis, with its deficiency potentially leading to serious consequences. There are 229 identified variations in the human TG gene, and the possibility of oligogenic inheritance has been raised.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2021)

添加到收藏夹

Article Biochemical Research Methods

The structure of natively iodinated bovine thyroglobulin

Kookjoo Kim et al.

Summary: Thyroglobulin is a glycoprotein essential for the generation of thyroid hormones. The study used cryoEM to reveal the high-resolution structure of bovine thyroglobulin, showing the structural features involved in thyroxine synthesis.

ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2021)

添加到收藏夹

Article Medicine, Research & Experimental

Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death

Xiaohan Zhang et al.

Summary: Although complete absence of thyroid hormone is deadly, misfolding of thyroglobulin can lead to severe ER stress and cell death in the thyroid gland. Interestingly, individuals with specific mutations in thyroglobulin can still synthesize thyroxine to sustain life, albeit with potential consequences of profound hypothyroidism.

JCI INSIGHT (2021)

添加到收藏夹

Article Cell Biology

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms

Mauricio Gomes Pio et al.

Summary: Analysis of TG gene variants in the Genome Aggregation Database revealed distinct prevalence patterns in different ethnic groups, providing a valuable reference for the diagnosis of congenital hypothyroidism. The identification of 282 novel TG variants, predominantly consisting of nonsense and splice site variants, offers important insights into the structure/function relationships of the gene and serves as a valuable tool for clinical diagnosis and genetic counseling.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2021)

添加到收藏夹

Review Endocrinology & Metabolism

New genetics in congenital hypothyroidism

Athanasia Stoupa et al.

Summary: Congenital hypothyroidism (CH) is a common neonatal endocrine disorder caused by thyroid development or function defects, which may be of primary or central origin. The pathogenesis of CH remains largely unknown, with the contribution of genetic and environmental factors. Recent advancements in phenotypic descriptions of patients, next-generation sequencing technologies, and animal models have led to the discovery of novel candidate genes in thyroid development and pathways.

ENDOCRINE (2021)

添加到收藏夹

Article Multidisciplinary Sciences