Inherited defects of thyroxine-binding proteins.

@article{Pappa2015InheritedDO,
  title={Inherited defects of thyroxine-binding proteins.},
  author={Theodora Pappa and Alfonso Massimiliano Ferrara and Samuel Refetoff},
  journal={Best practice & research. Clinical endocrinology & metabolism},
  year={2015},
  volume={29 5},
  pages={735-47}
}
Thyroid hormones (TH) are bound to three major serum transport proteins, thyroxine-binding globulin (TBG), transthyretin (TTR) and human serum albumin (HSA). TBG has the strongest affinity for TH, whereas HSA is the most abundant protein in plasma. Individuals harboring genetic variations in TH transport proteins present with altered thyroid function tests, but are clinically euthyroid and do not require treatment. Clinical awareness and early recognition of these conditions are important to… CONTINUE READING
Highly Cited
This paper has 20 citations. REVIEW CITATIONS

Citations

Publications citing this paper.

References

Publications referenced by this paper.
Showing 1-10 of 49 references

A novel mechanism of inherited TBG de fi ciency : mutation in a liver - speci fi c enhancer

AM Ferrara, T Pappa, J Fu
J Clin Endocrinol Metab • 2015

A novel albumin gene mutation ( R 222 I ) in familial dysalbuminemic hyper - thyroxinemia

N Schoenmakers, C Moran, I Campi
J Clin Endocrinol Metab • 2014

An identical missense mutation in the albumin gene produces familial dysalbuminemic hyperthyroxinemia in 8 unrelated families

T Sunthornthepvarakul, P Angkeow, RE Weiss
Clin Chem • 2011

Structural mechanism for the carriage and release of thyroxine in the blood.

Proceedings of the National Academy of Sciences of the United States of America • 2006

Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.

Proceedings of the National Academy of Sciences of the United States of America • 2003

Characterization of T(4)-binding globulin cleaved by human leukocyte elastase.

The Journal of clinical endocrinology and metabolism • 2002
View 1 Excerpt

Similar Papers

Loading similar papers…