Citations for
1CRTC1, NPRL2, NPRL3, WDR24
The GATOR2 Component Wdr24 Regulates TORC1 Activity and Lysosome Function.
Cai W, Wei Y, Jarnik M, Reich J, Lilly MA.
PLoS Genet 12(5):e1006036. doi: 10.1371/journal.pgen.1006036. eCollection 2016 May. 2016
2FFEVF3, NPRL2, NPRL3
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM.
Ann Neurol 79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. 2016
3FFEVF3, NPRL3
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ.
Ann Neurol 79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12. 2016
4FFEVF3, NPRL3
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S.
Epilepsia 57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13. 2016
5DEPDC5, NPRL2, NPRL3
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S, Licchetta L, Tinuper P, Bisulli F, Pippucci T.
J Med Genet 53(8):503-10. doi: 10.1136/jmedgenet-2016-103883. Epub 2016 May 19. Review. 2016
6NPRL2, NPRL3
The TORC1 inhibitors Nprl2 and Nprl3 mediate an adaptive response to amino-acid starvation in Drosophila.
Wei Y, Lilly MA.
Cell Death Differ 21(9):1460-8. doi: 10.1038/cdd.2014.63. Epub 2014 May 2. 2014
7NPRL2, NPRL3
Reciprocal conversion of Gtr1 and Gtr2 nucleotide-binding states by Npr2-Npr3 inactivates TORC1 and induces autophagy.
Kira S, Tabata K, Shirahama-Noda K, Nozoe A, Yoshimori T, Noda T.
Autophagy 10(9):1565-78. doi: 10.4161/auto.29397. Epub 2014 Jun 30. 2014
8NPRL3
Nprl3 is required for normal development of the cardiovascular system.
Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR.
Mamm Genome 23(7-8):404-15. doi: 10.1007/s00335-012-9398-y. Epub 2012 Apr 27. 2012
9NPRL3, TP73
The evolutionary conserved gene C16orf35 encodes a nucleo-cytoplasmic protein that interacts with p73.
Lunardi A, Chiacchiera F, D'Este E, Carotti M, Dal Ferro M, Di Minin G, Del Sal G, Collavin L.
Biochem Biophys Res Commun 388(2):428-33. Epub 2009 Aug 8.PMID: 19666006 2009
10LCR-HBA@, NPRL3
Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element.
Vyas P, Vickers MA, Picketts DJ, Higgs DR.
Genomics 29(3):679-89. 1995