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Non-canonical mTORC1-TFEB activation promotes hepatocyte plasticity and high-gr…

Zhang(C),Chao(X),Williams(SN),Wei(X),DiGirol… J Clin Invest 2026-08-06

...Tsc1 knockout (L-Tsc1 KO) and L-Tsc1,Tfeb double KO (DKO) mice. Loss of hepatic Tsc1 led to increased phosphorylation of...

Malignant MITF-Rearranged PEComa With Novel EEF1A1::MITF Fusion.

Raney(S),Karunamurthy(A),Ho(J),Bubar(R),Mohe… Genes Chromosomes Cancer 2026-09-00

...TSC1, TSC2, or FLCN alteration was identified. These findings expand the molecular spectrum of PEComa and support the em...

Aggressive Sporadic Renal Angiomyolipoma With Tumor Thrombus Extending Into the…

Cushman(CJ),Nagy(KK),Martinez(R),Tarafdar(KR) Am J Case Rep 2026-08-28

...TSC1 and TSC2 mutations, consistent with a sporadic angiomyolipoma. The patient underwent successful en bloc left radica...

UCHL1 enhances TSC1 transcription by stabilizing FOXO1 through deubiquitination…

Wang(Y),Lu(J),Gu(C),Xie(Z),Xia(Z),Guo(B),Jia… Histol Histopathol 2026-05-00

...TSC1) promoter, enhancing TSC1 transcription. Intriguingly, knockdown of FOXO1 counteracted the inhibitory effects of UC...

Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occu…

Zhang(XF),Wang(YJ),Li(SX),Liu(P),Hu(WG) Front Genet 2026-00-00

...TSC1 c.1041G>A variant. Presymptomatic risdiplam was initiated at a corrected gestational age of 38+5 weeks. Both twins ...

ENT1 inhibitor J4 restores cognitive function and white-matter integrity in a m…

Hsieh(CC),Tsou(YS),Huang(NK),Chen(TC),Li(SJ)… J Biomed Sci 2026-06-17

...TSC1 or TSC2 genes, leading to overactivation of mTOR signaling and dysregulation of downstream pathways. The majority o...

Multisystem Imaging Features and Organ Co-Occurrence in Children With Tuberous …

Tan(Y),Guo(C),Liu(J),Fu(M),Wang(Y),Yuan(L) J Clin Ultrasound 2026-06-19

...TSC1: 11.4%, p < 0.001) and renal cysts (TSC2: 33.8% vs. TSC1: 9.1%, p = 0.003). The most frequent combined involvement ...

Research of Tuberous Sclerosis Complex (TSC)-Associated Neuropsychiatric Disord…

Zheng(F),Yu(T),Salim Ahmad(I),Zhao(X),Yuan(B… Pediatr Neurol 2026-08-00

...TSC1 and TSC2 genotypes. Cross-sectional study of 311 consecutive patients meeting 2012 International TSC Consensus crit...

CRISPR screen identifies autophagy inhibition (GNS561) as a PARP inhibitor (AZD…

Yu(T),Barayan(R),Song(L),Venkatasubramanian(… Cancer Metab 2026-06-24

...TSC1 and TSC2 sensitized SCLC cell lines to olaparib. Therapeutic strategies combining PARPi and autophagy inhibition de...

Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyoli…

Fekih(A),Heni(W),Messaoudi(C),Selmi(Y),Touat… Clin Case Rep 2026-06-00

...TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestation...

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