Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

作者：Kevin Eade, Marin L. Gantner, Joseph Hostyk, Takayuki Nagasaki, Sarah Giles, Regis Fallon, Sarah Harkins‐Perry, M Baldini, Esther W. Lim, Lea Scheppke, Michael I. Dorrell, Carolyn Cai, Evan H. Baugh, Charles J. Wolock, Martina Wallace, Rebecca B. Berlow, David B. Goldstein, Christian M. Metallo, Martin Friedlander, Rando Allikmets · 发表于：Nature Metabolism · 年份：2021 · DOI：10.1038/s42255-021-00361-3 · 被引用次数：64 · 研究领域：Lysosomal Storage Disorders Research、Renal Diseases and Glomerulopathies、Cellular transport and secretion