Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression

Abstract Background 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 neu...

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Bibliographic Details
Main Authors: Roberto Bonelli, Brendan R. E. Ansell, Luca Lotta, Thomas Scerri, Traci E. Clemons, Irene Leung, The MacTel Consortium, Tunde Peto, Alan C. Bird, Ferenc B. Sallo, Claudia Langenberg, Melanie Bahlo
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Genome Medicine
Subjects:
Retinal disease
Mendelian randomisation
Metabolomics
GWAS
Serine
Online Access:https://doi.org/10.1186/s13073-021-00848-4

Internet

https://doi.org/10.1186/s13073-021-00848-4

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