Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Marin L GantnerKevin EadeMartina WallaceMichal K HandzlikRegis FallonJennifer TrombleyRoberto BonelliSarah GilesSarah Harkins-PerryTjebo F C HeerenLydia SauerYoichiro IdeguchiMichelle BaldiniLea ScheppkeMichael I DorrellMaki KitanoBarbara J HartCarolyn CaiTakayuki NagasakiMehmet G BadurMali OkadaSasha M WoodsCatherine EganMark GilliesRobyn GuymerFlorian EichlerMelanie BahloMarcus FruttigerRando AllikmetsPaul S BernsteinChristian M MetalloMartin FriedlanderPublished in: The New England journal of medicine (2019)
Elevated levels of atypical deoxysphingolipids, caused by variant SPTLC1 or SPTLC2 or by low serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropathy. (Funded by the Lowy Medical Research Institute and others.).