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Article

<i>C. elegans</i> models of Marfan and Marfan-like Syndromes reveal trafficking defects of the type II TGFβ receptor as a potential novel disease mechanism

2018-12-03

Abstract excerpt

The transforming growth factor-β (TGFβ) family plays an important role in many developmental processes and when mutated often contributes to various diseases. Marfan syndrome is a genetic disease with an occurrence of approximately 1 in 5,000. The disease is caused by mutations in fibrillin, which lead to an increase in TGFβ ligand activity, resulting in abnormalities of connective tissues which can be life-threat...

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Literature Corpus work
937df9c8-d47a-57d2-8a42-f4f38813ff02
DOI
10.1101/486381
Open publication

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