To identify candidate therapeutic targets for cancers with SF3B1 hotspot mutations, drug-sensitivity screening of an in-house library of 80 small-molecule inhibitors resulted in the identification of a series of candidate SF3B1 mutant (SF3B1[MUT]) synthetic lethal drugs that led to significant reduction of survival in SF3B1(K700E) cells.
Researchers in London have cut through the complexity of the genetics underlying bipolar spectrum disorder (BSD) to discover single nucleotide polymorphisms they say are specific enough to form the basis of the first ever biomarker-based diagnostic test in psychiatry.
Characterized by periods of deep and profound depression alternating with periods of excessive mania mood swings with diminished sleep, bipolar spectrum disorder (BSD) affected an estimated 40 million people globally in 2019 in the U.S. with a major part of the problem attributed to delays in diagnosis including a mean time of 5-13 years. These delays in BSD diagnosis exert lifelong impacts including heightened suicide risk, relationship strains, impaired work/education performance, significant financial burdens and increased risk for cardiovascular disease.
Researchers from Harvard Medical School, Yale University and University of Leiden have uncovered two new potential biomarkers of dysregulated glucose metabolism in Alzheimer’s disease (AD). Glucose hypometabolism is consistently observed in AD but the molecular changes behind this are unclear. Findings from recent research have indicated dysregulation of glycolysis markers in AD cerebrospinal fluid (CSF) and tissue.
Researchers from Washington University in St. Louis reported data validating microtubule-binding region (MTBR) of tau containing the residue 243 (MTBR-tau243) as a new cerebrospinal fluid (CSF) biomarker specific for insoluble tau aggregates in Alzheimer’s disease (AD).
Researchers from Murdoch Children’s Research Institute presented data from a study that linked recessive variants in the SART3 gene with a novel neurodevelopmental syndrome.
Researchers from Children’s Hospital of Philadelphia presented data from a study that linked variants in DNA methyltransferase 1-associated protein 1 (DMAP1) to a novel neurodevelopmental disorder.
It has been previously demonstrated that in zebrafish, the activity of UXS1, a gene that encodes UDP-glucuronate decarboxylase 1, is essential for production and organization of skeletal extracellular matrix. Now, researchers from the University of Oslo and affiliated organizations have identified a novel pathogenic variant in UXS1.
Researchers from the University of Lausanne and affiliated organizations recently presented data from studies that aimed to identify novel genes associated with neurodevelopmental disease (NDD).
The WW domain binding protein 4 (WBP4) is part of the early spliceosomal complex, and it has been previously shown to enhance splicing both in vitro and in vivo, as well as to regulate alternative splicing. At the ESHG meeting, researchers from Hebrew University of Jerusalem presented data from a study that aimed to delineate WBP4 in the context of human pathologies.
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