Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Macular telangiectasia is an etiologically complex phenotype. This study used a combination of approaches to identify both genetic and environmental risk factors of the disease, both of which affect lipid metabolism.

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Bibliographic Details
Published inThe New England journal of medicine Vol. 381; no. 15; pp. 1422 - 1433
Main Authors Gantner, Marin L, Eade, Kevin, Wallace, Martina, Handzlik, Michal K, Fallon, Regis, Trombley, Jennifer, Bonelli, Roberto, Giles, Sarah, Harkins-Perry, Sarah, Heeren, Tjebo F.C, Sauer, Lydia, Ideguchi, Yoichiro, Baldini, Michelle, Scheppke, Lea, Dorrell, Michael I, Kitano, Maki, Hart, Barbara J, Cai, Carolyn, Nagasaki, Takayuki, Badur, Mehmet G, Okada, Mali, Woods, Sasha M, Egan, Catherine, Gillies, Mark, Guymer, Robyn, Eichler, Florian, Bahlo, Melanie, Fruttiger, Marcus, Allikmets, Rando, Bernstein, Paul S, Metallo, Christian M, Friedlander, Martin
Format Journal Article
LanguageEnglish
Published United States Massachusetts Medical Society 10.10.2019
Subjects
Amino acids
Autonomic nervous system
Cell death
Diabetes
Diabetic retinopathy
Families & family life
Heredity
Lipid metabolism
Medical imaging
Medical research
Metabolism
Metabolites
Mutation
Organoids
Palmitoyltransferase
Peripheral neuropathy
Research centers
Retina
Risk factors
Serine
Serine palmitoyltransferase
Statistical analysis
Visual perception
La Jolla California
United States > US
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Summary:Macular telangiectasia is an etiologically complex phenotype. This study used a combination of approaches to identify both genetic and environmental risk factors of the disease, both of which affect lipid metabolism.
Bibliography:ObjectType-Article-1
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Drs. Gantner, Eade, and Wallace and Drs. Bernstein, Metallo, and Friedlander contributed equally to this article.
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMoa1815111