Publications by authors named "G Tax"
Article Synopsis
- * A case of a patient with ETV6-MECOM fusion-positive refractory AML used molecular analysis and drug screening to discover a novel combination therapy involving Ruxolitinib and hydroxyurea, which improved disease control and quality of life.
- * This case highlights the effectiveness of high throughput drug screening in guiding treatment decisions for high-risk leukaemia patients and the potential benefit of JAK1/2 inhibitors in palliative care.
Article Synopsis
- Misfolded glycoproteins in the endoplasmic reticulum (ER) are retained by the enzyme UGGT, which recognizes and marks them for retention by re-glucosylating their N-linked glycans.
- In the context of certain congenital mutations in the Trop-2 glycoprotein, which is associated with gelatinous drop-like corneal dystrophy (GDLD), these misfolded versions of Trop-2 are unable to reach the plasma membrane and remain trapped in the ER.
- The study found that inhibiting UGGT1 in mammalian cells can restore membrane localization of these mutants, suggesting that targeting UGGT1 may offer a new treatment approach for diseases caused by similar misfolded glycoproteins that still
Article Synopsis
- * A study tested 125 patient samples against 126 anticancer drugs, finding strong correlations between specific genomic alterations and effective drug responses, indicating potential targeted treatments.
- * The integration of high-throughput screening (HTS) with molecular profiling can enhance precision medicine by identifying effective biomarkers and drug combinations for high-risk pediatric cancer patients.
Endoplasmic reticulum (ER) retention of mis-folded glycoproteins is mediated by the ERlocalised eukaryotic glycoprotein secretion checkpoint, UDP-glucose glycoprotein glucosyl-transferase (UGGT). The enzyme recognises a mis-folded glycoprotein and flags it for ER retention by reglucosylating one of its N-linked glycans. In the background of a congenital mutation in a secreted glycoprotein gene, UGGT-mediated ER retention can cause rare disease even if the mutant glycoprotein retains activity ("responsive mutant").
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