Article

Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasia

2023-08-04

Abstract excerpt

<h4>ABSTRACT</h4> Generalised Lymphatic Dysplasia (GLD) is characterised by widespread lymphoedema, with at least one of the following: fetal hydrops, intestinal or pulmonary lymphangiectasia, pleural effusions, pericardial effusions and ascites. Satisfactory medical therapies are lacking. A genetic association has been identified that prevents expression or surface trafficking of PIEZO1, a subunit of mechanically...

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Literature Corpus work: e35b3ba4-f488-56aa-91a6-d18270cf7709
DOI: 10.1101/2023.08.01.23292554

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