Article

Genetic Disruption of Serine Biosynthesis is a Key Driver of Macular Telangiectasia Type 2 Etiology and Progression

2020-02-05

Abstract excerpt

<h4>Purpose</h4> Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre, and glycine/serine/threonine metabolism genes. Serine deficiency may contribute to MacTel via neurotoxic deoxysphingolipid production, however, an independent vascular contribution is also suspected. Here we use sta...

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Literature Corpus work: aa429443-869c-59f2-aa5c-baa602683a9c
DOI: 10.1101/2020.02.04.934356

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