BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 32921582)

  • 1. A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.
    Schwarz JM; Pedrazza L; Stenzel W; Rosa JL; Schuelke M; Straussberg R
    Mol Genet Metab; 2020; 131(1-2):126-134. PubMed ID: 32921582
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Upregulation of 6-phosphofructo-2-kinase (PFKFB3) by hyperactivated mammalian target of rapamycin complex 1 is critical for tumor growth in tuberous sclerosis complex.
    Wang Y; Tang S; Wu Y; Wan X; Zhou M; Li H; Zha X
    IUBMB Life; 2020 May; 72(5):965-977. PubMed ID: 31958214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.
    Chong-Kopera H; Inoki K; Li Y; Zhu T; Garcia-Gonzalo FR; Rosa JL; Guan KL
    J Biol Chem; 2006 Mar; 281(13):8313-6. PubMed ID: 16464865
    [TBL] [Abstract][Full Text] [Related]  

  • 4. TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β.
    Ogórek B; Lam HC; Khabibullin D; Liu HJ; Nijmeh J; Triboulet R; Kwiatkowski DJ; Gregory RI; Henske EP
    Hum Mol Genet; 2018 May; 27(9):1654-1663. PubMed ID: 29509898
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways.
    Pal R; Xiong Y; Sardiello M
    Proc Natl Acad Sci U S A; 2019 Feb; 116(8):2977-2986. PubMed ID: 30728291
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.
    Di Nardo A; Wertz MH; Kwiatkowski E; Tsai PT; Leech JD; Greene-Colozzi E; Goto J; Dilsiz P; Talos DM; Clish CB; Kwiatkowski DJ; Sahin M
    Hum Mol Genet; 2014 Jul; 23(14):3865-74. PubMed ID: 24599401
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
    Farach LS; Pearson DA; Woodhouse JP; Schraw JM; Sahin M; Krueger DA; Wu JY; Bebin EM; Lupo PJ; Au KS; Northrup H;
    Pediatr Neurol; 2019 Jul; 96():58-63. PubMed ID: 31005478
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Architecture of the Tuberous Sclerosis Protein Complex.
    Ramlaul K; Fu W; Li H; de Martin Garrido N; He L; Trivedi M; Cui W; Aylett CHS; Wu G
    J Mol Biol; 2021 Jan; 433(2):166743. PubMed ID: 33307091
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PKG1-modified TSC2 regulates mTORC1 activity to counter adverse cardiac stress.
    Ranek MJ; Kokkonen-Simon KM; Chen A; Dunkerly-Eyring BL; Vera MP; Oeing CU; Patel CH; Nakamura T; Zhu G; Bedja D; Sasaki M; Holewinski RJ; Van Eyk JE; Powell JD; Lee DI; Kass DA
    Nature; 2019 Feb; 566(7743):264-269. PubMed ID: 30700906
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
    Giannikou K; Zhu Z; Kim J; Winden KD; Tyburczy ME; Marron D; Parker JS; Hebert Z; Bongaarts A; Taing L; Long HW; Pisano WV; Alexandrescu S; Godlewski B; Nellist M; Kotulska K; Jozwiak S; Roszkowski M; Mandera M; Thiele EA; Lidov H; Getz G; Devinsky O; Lawrence MS; Ligon KL; Ellison DW; Sahin M; Aronica E; Meredith DM; Kwiatkowski DJ
    Mod Pathol; 2021 Feb; 34(2):264-279. PubMed ID: 33051600
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation.
    Alsaqati M; Heine VM; Harwood AJ
    Mol Autism; 2020 Oct; 11(1):80. PubMed ID: 33076974
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
    Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L
    Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tuberous sclerosis complex is required for tumor maintenance in MYC-driven Burkitt's lymphoma.
    Hartleben G; Müller C; Krämer A; Schimmel H; Zidek LM; Dornblut C; Winkler R; Eichwald S; Kortman G; Kosan C; Kluiver J; Petersen I; van den Berg A; Wang ZQ; Calkhoven CF
    EMBO J; 2018 Nov; 37(21):. PubMed ID: 30237309
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.
    Zech R; Kiontke S; Mueller U; Oeckinghaus A; Kümmel D
    J Biol Chem; 2016 Sep; 291(38):20008-20. PubMed ID: 27493206
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Decoding of novel missense TSC2 gene variants using in-silico methods.
    Sudarshan S; Kumar M; Kaur P; Kumar A; G S; Sapra S; Gulati S; Gupta N; Kabra M; Roy Chowdhury M
    BMC Med Genet; 2019 Oct; 20(1):164. PubMed ID: 31655562
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tuberous Sclerosis Complex (TSC) Inactivation Increases Neuronal Network Activity by Enhancing Ca
    Hisatsune C; Shimada T; Miyamoto A; Lee A; Yamagata K
    J Neurosci; 2021 Sep; 41(39):8134-8149. PubMed ID: 34417327
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.
    Savini MN; Mingarelli A; Peron A; La Briola F; Cervi F; Alfano RM; Canevini MP; Vignoli A
    Ital J Pediatr; 2020 Mar; 46(1):36. PubMed ID: 32216820
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice.
    Haji N; Riebe I; Aguilar-Valles A; Artinian J; Laplante I; Lacaille JC
    Mol Autism; 2020 May; 11(1):29. PubMed ID: 32375878
    [TBL] [Abstract][Full Text] [Related]  

  • 19. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
    Gordo G; Tenorio J; Arias P; Santos-Simarro F; García-Miñaur S; Moreno JC; Nevado J; Vallespin E; Rodriguez-Laguna L; de Mena R; Dapia I; Palomares-Bralo M; Del Pozo Á; Ibañez K; Silla JC; Barroso E; Ruiz-Pérez VL; Martinez-Glez V; Lapunzina P
    Clin Genet; 2018 Apr; 93(4):762-775. PubMed ID: 28892148
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.
    Zhang J; Kim J; Alexander A; Cai S; Tripathi DN; Dere R; Tee AR; Tait-Mulder J; Di Nardo A; Han JM; Kwiatkowski E; Dunlop EA; Dodd KM; Folkerth RD; Faust PL; Kastan MB; Sahin M; Walker CL
    Nat Cell Biol; 2013 Oct; 15(10):1186-96. PubMed ID: 23955302
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.