Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 102

1.

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. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.

2.

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. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.

3.

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. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6.

4.

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.

Bamborschke D, Pergande M, Becker K, Koerber F, Dötsch J, Vierzig A, Weber LT, Cirak S.

Brain Dev. 2018 Jun;40(6):480-483. doi: 10.1016/j.braindev.2018.02.008. Epub 2018 Mar 2.

PMID:
29501407
5.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F.

J Am Soc Nephrol. 2018 Aug;29(8):2123-2138. doi: 10.1681/ASN.2017121312. Epub 2018 Jun 29.

6.

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F.

J Clin Invest. 2015 Jun;125(6):2375-84. doi: 10.1172/JCI79504. Epub 2015 May 11.

7.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.

J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25.

8.

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

Atkinson D, Nikodinovic Glumac J, Asselbergh B, Ermanoska B, Blocquel D, Steiner R, Estrada-Cuzcano A, Peeters K, Ooms T, De Vriendt E, Yang XL, Hornemann T, Milic Rasic V, Jordanova A.

Neurology. 2017 Feb 7;88(6):533-542. doi: 10.1212/WNL.0000000000003595. Epub 2017 Jan 11.

9.

Disruption of sphingosine 1-phosphate lyase confers resistance to chemotherapy and promotes oncogenesis through Bcl-2/Bcl-xL upregulation.

Colié S, Van Veldhoven PP, Kedjouar B, Bedia C, Albinet V, Sorli SC, Garcia V, Djavaheri-Mergny M, Bauvy C, Codogno P, Levade T, Andrieu-Abadie N.

Cancer Res. 2009 Dec 15;69(24):9346-53. doi: 10.1158/0008-5472.CAN-09-2198.

10.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.

J Clin Invest. 2013 Aug;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8.

11.

SGPL1 (sphingosine phosphate lyase 1) modulates neuronal autophagy via phosphatidylethanolamine production.

Mitroi DN, Karunakaran I, Gräler M, Saba JD, Ehninger D, Ledesma MD, van Echten-Deckert G.

Autophagy. 2017 May 4;13(5):885-899. doi: 10.1080/15548627.2017.1291471.

12.

First evidence of SGPL1 expression in the cell membrane silencing the extracellular S1P siren in mammary epithelial cells.

Engel N, Adamus A, Frank M, Kraft K, Kühn J, Müller P, Nebe B, Kasten A, Seitz G.

PLoS One. 2018 May 2;13(5):e0196854. doi: 10.1371/journal.pone.0196854. eCollection 2018.

13.

Evidence for a link between histone deacetylation and Ca²+ homoeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts.

Ihlefeld K, Claas RF, Koch A, Pfeilschifter JM, Meyer Zu Heringdorf D.

Biochem J. 2012 Nov 1;447(3):457-64. doi: 10.1042/BJ20120811.

PMID:
22908849
14.

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.

Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA.

J Clin Endocrinol Metab. 2019 May 1;104(5):1484-1490. doi: 10.1210/jc.2018-02238.

15.

Hematopoietic sphingosine 1-phosphate lyase deficiency decreases atherosclerotic lesion development in LDL-receptor deficient mice.

Bot M, Van Veldhoven PP, de Jager SC, Johnson J, Nijstad N, Van Santbrink PJ, Westra MM, Van Der Hoeven G, Gijbels MJ, Müller-Tidow C, Varga G, Tietge UJ, Kuiper J, Van Berkel TJ, Nofer JR, Bot I, Biessen EA.

PLoS One. 2013 May 20;8(5):e63360. doi: 10.1371/journal.pone.0063360. Print 2013.

16.

Partial deficiency of sphingosine-1-phosphate lyase confers protection in experimental autoimmune encephalomyelitis.

Billich A, Baumruker T, Beerli C, Bigaud M, Bruns C, Calzascia T, Isken A, Kinzel B, Loetscher E, Metzler B, Mueller M, Nuesslein-Hildesheim B, Kleylein-Sohn B.

PLoS One. 2013;8(3):e59630. doi: 10.1371/journal.pone.0059630. Epub 2013 Mar 27.

17.

Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome.

Zhao F, Zhu JY, Richman A, Fu Y, Huang W, Chen N, Pan X, Yi C, Ding X, Wang S, Wang P, Nie X, Huang J, Yang Y, Yu Z, Han Z.

J Am Soc Nephrol. 2019 May;30(5):840-853. doi: 10.1681/ASN.2018080786. Epub 2019 Mar 25.

PMID:
30910934
18.

Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism.

Choi YJ, Saba JD.

Adv Biol Regul. 2019 Jan;71:128-140. doi: 10.1016/j.jbior.2018.09.004. Epub 2018 Sep 25. Review.

19.

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

Lovric S, Fang H, Vega-Warner V, Sadowski CE, Gee HY, Halbritter J, Ashraf S, Saisawat P, Soliman NA, Kari JA, Otto EA, Hildebrandt F; Nephrotic Syndrome Study Group.

Clin J Am Soc Nephrol. 2014 Jun 6;9(6):1109-16. doi: 10.2215/CJN.09010813. Epub 2014 Apr 17.

20.

Discontinued postnatal thymocyte development in sphingosine 1-phosphate-lyase-deficient mice.

Weber C, Krueger A, Münk A, Bode C, Van Veldhoven PP, Gräler MH.

J Immunol. 2009 Oct 1;183(7):4292-301. doi: 10.4049/jimmunol.0901724. Epub 2009 Sep 11.

Supplemental Content

Support Center