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PubMed (OMIM) for id: 8131

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Architecture of the human GATOR1 and GATOR1-Rag GTPases complexes.
Shen K, Huang RK, Brignole EJ, Condon KJ, Valenstein ML, Chantranupong L, Bomaliyamu A, Choe A, Hong C, Yu Z, Sabatini DM. Shen K, et al. Nature. 2018 Apr 5;556(7699):64-69. doi: 10.1038/nature26158. Epub 2018 Mar 28. Nature. 2018. PMID: 29590090 Free PMC article.
SAMTOR is an S-adenosylmethionine sensor for the mTORC1 pathway.
Gu X, Orozco JM, Saxton RA, Condon KJ, Liu GY, Krawczyk PA, Scaria SM, Harper JW, Gygi SP, Sabatini DM. Gu X, et al. Science. 2017 Nov 10;358(6364):813-818. doi: 10.1126/science.aao3265. Science. 2017. PMID: 29123071 Free PMC article.
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. Weckhuysen S, et al. Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13. Epilepsia. 2016. PMID: 27173016 Free article.
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. Ricos MG, et al. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
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. Sim JC, et al. Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26285051