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

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 neurotoxic...

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Detalles Bibliográficos
Autores principales: Bonelli, Roberto, Ansell, Brendan R. E., Lotta, Luca, Scerri, Thomas, Clemons, Traci E., Leung, Irene, Peto, Tunde, Bird, Alan C., Sallo, Ferenc B., Langenberg, Claudia, Bahlo, Melanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945323/
https://www.ncbi.nlm.nih.gov/pubmed/33750426
http://dx.doi.org/10.1186/s13073-021-00848-4

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