Citations for
1SGPL1, SRNIA
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.
J Clin Invest 127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6. 2017
2SGPL1, SRNIA
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA.
J Clin Invest 127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6. 2017
3SGPL1, SRNIA
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T.
Hum Mutat 38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. 2017
4SGPL1, SRNIA
Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal Ca2+ storage.
Vienken H, Mabrouki N, Grabau K, Claas RF, Rudowski A, Schömel N, Pfeilschifter J, Lütjohann D, van Echten-Deckert G, Meyer Zu Heringdorf D.
Sci Rep 7:43575. doi: 10.1038/srep43575. 2017
5SGPL1, SRNIA
Genetics: SGPL1 mutations cause a novel SRNS syndrome.
Carney EF.
Nat Rev Nephrol 13(4):191. doi: 10.1038/nrneph.2017.19. Epub 2017 Feb 20. No abstract available. 2017