Protego Biopharma Inc. has identified prodrugs of transthyretin (TTR; PALB) stabilizers acting as TTR aggregation and/or amyloid formation inhibitors reported to be useful for the treatment of familial amyloid polyneuropathy and familial amyloid cardiomyopathy.
PTC Therapeutics Inc. has synthesized heteroaryl compounds acting as huntingtin (HTT) (mutant) expression inhibitors reported to be useful for the treatment of Huntington's disease.
Gate Bioscience Inc. has disclosed protein transport protein Sec61 complex inhibitors reported to be useful for the treatment of cancer, viral infections, malaria, prion infection, light chain amyloidosis, autoimmune diseases and renal and urinary system genetic disorders.
Diffuse large B-cell lymphomas (DLBCL) with mutations in B-cell translocation gene 1 (BTG1) present poor outcomes and extensive dissemination. Missense mutations of BTG1 are specific to germinal center-derived B cell lymphomas, which suggests an oncogenic function that depends on the specific cellular context. In a recent study published in Science, researchers from Weill Cornell Medicine and collaborators investigated how BTG1 mutations further contribute to the pathogenesis of these tumors.
In cancer cells that aberrantly express cystine transporter solute carrier family 7 member 11 (SLC7A11), high rates of cystine uptake and cystine reduction to cysteine occur. When combined with glucose starvation, this results in a massive accumulation of intracellular disulfide molecules and rapid cell death. However, the mechanisms underlying this type of cell death remain unclear.
Researchers from the University of Antwerp reported the characterization of a novel clinically relevant mouse model of DFNA9 (deafness, autosomal dominant 9), an autosomal dominant inherited disorder characterized by vestibular dysfunction and adult-onset progressive hearing loss caused by different heterozygous mutations in the COCH gene.
The success of the treosulfan-based conditioning regimen in patients with β-thalassemia undergoing hematopoietic cell transplantation (HCT) is limited due to several complications, such as mixed chimerism and graft rejection. Researchers previously found that polymorphisms in the NQO1 or glutathione S-transferase A1 (GSTA1) genes had an impact on treosulfan pharmacokinetics, which then impacted related toxicities after HCT.
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