UBE3A (Ubiquitin Protein Ligase E3A)

Conversely, LPP depletion accelerates metastatic outgrowth and associates with reduced patient survival. Collectively, our findings reveal a TGF-β/GFAT1/LPP axis that couples metabolic reprogramming to metastatic competence, and highlight O-GlcNAcylation blockade or targeted stabilization of LPP as potential therapeutic strategies against metastatic HCC.

In the UC mouse model, BR mitigated colonic pathological damage, downregulated LCN2 expression, and upregulated UBE3A levels. BR exerted anti-colitis effects by upregulating the expression of UBE3A and downregulating LCN2 levels, thereby inhibiting cell injury, ferroptosis, and colonic pathological damage.

P2, N=48, Completed, Hoffmann-La Roche | Active, not recruiting --> Completed

Nevertheless, UB3A- cells do not show evident morphological abnormalities. Overall, these data suggest that AS models presented an altered signaling pathway related to autophagy/UPS systems, potentially leading to the accumulation of toxic proteins affecting synaptic development.

Angelman syndrome is a rare neurodevelopmental disorder caused by a defect in the UBE3A gene, leading to characteristic neurological and behavioral manifestations. Although no clear association exists between these two conditions, we report a case of a 36-year-old man with Angelman syndrome who developed urothelial carcinoma of the urinary bladder despite the absence of identifiable risk factors or a family history of urothelial cancer, followed by two subsequent recurrences.

The promotion of PRDX1 on proliferation, migration, and angiogenesis was canceled by knockdown of TRAF4. PRDX1 inhibited oxidative stress and senescence via restraining the degradation of TRAF4 by binding to UBE3A, eventually accelerating wound healing.

P1/2, N=70, Recruiting, Ionis Pharmaceuticals, Inc. | Active, not recruiting --> Recruiting | N=51 --> 70

In vivo , E6 inhibition suppresses the growth of human HPV16 expressing cervical and oropharyngeal tumor cell lines in mice. The strategy of targeting a viral oncoprotein with a covalent inhibitor demonstrates a genotype-specific therapeutic strategy for HPV-associated cancers and premalignant infections, addressing a significant unmet need in current treatment options.

P1, N=74, Completed, Hoffmann-La Roche | Active, not recruiting --> Completed

P=N/A, N=90, Not yet recruiting, The Second Affiliated Hospital of Zhejiang University School of Medicine; The Second Affiliated Hospital of Zhejiang University School of Medicine

P2, N=48, Active, not recruiting, Hoffmann-La Roche | Recruiting --> Active, not recruiting

In breast cancer patients, FRMD8 gene promoter is found hypermethylated and low level of FRMD8 predicts poor prognosis. Therefore, FRMD8 is an important regulator of ERα and may control therapeutic sensitivity to tamoxifen in ERα-positive breast cancer patients.