In humans, a neomorphic isocitrate dehydrogenase mutation (idh-1neo) causes increased levels of cellular D-2-hydroxyglutarate (D-2HG), a proposed oncometabolite. However, the physiological effects of increased D-2HG and whether additional metabolic changes …
Results BK40143 and BK40197 are selective for specific tyrosine kinases We performed screening analysis via KinomeScan, a competitive binding assay, to determine the selectivity profiles of BK40143 (Fig 1A) and BK40197 (Fig 1B) against over 450 distinct …
Introduction Germ cells are specified during early embryogenesis in Drosophila melanogaster and within hours undergo several important developmental transitions that define much of its identity. Formation of germ cells relies on the maternal deposition of …
Introduction Mitophagy, or mitochondrial-specific autophagy, is a conserved organellar quality control process that promotes the selective turnover of damaged or superfluous mitochondria (Pickles et al, 2018; Uoselis et al, 2023). During mitophagy, …
Results A union list of m5C sites in human transcriptomes BsRNA-Seq data from seven human tissues (two replicates each) and five human cell lines (typically replicated; several conditions of altered NSUN gene expression) were collected from six published …
Introduction Collagens are the most abundant proteins in the human body and the molecular scaffold for animal life (Shoulders & Raines, 2009). Collagenopathies are a collection of genetic diseases caused by defects in the synthesis, folding, quality …
Introduction Extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue (MALT) develop at locations of chronic inflammation because of infections or autoimmune diseases such as Helicobacter pylori (Hp) gastritis, Sjӧgren’s sialo-adenitis, and …
Introduction Pattern recognition receptors (PRRs) are the molecular sensors of invading pathogens and are important for the generation of coordinated innate immune responses (Takeuchi & Akira, 2010). They recognize pathogen-associated molecular …
Introduction Mesial temporal lobe epilepsy (MTLE) is the most common form of epilepsy in adults (Falconer et al, 1964; Margerison & Corsellis, 1966). A portion of patients develop MTLE with hippocampal sclerosis (MTLE-HS), consisting of unilateral …
Introduction Regulation of gene expression is at the heart of virtually every biological process. How genes are switched on and off at a precise time and in a specific place drives developmental programs, defines the type and state of a cell, regulates …
Introduction The closely related transmembrane E3 ligases RNF43 and ZNRF3 control cell surface abundance of Frizzled (FZD) proteins, the primary receptors for WNT, by promoting their ubiquitination and lysosomal degradation (Hao et al, 2012; Koo et al, …
Introduction Errors in chromosome segregation result in aneuploidy, a leading cause of embryonic lethality, and congenital defects if they occur during meiosis and cancer if they occur during mitosis (Nasmyth, 2002). Faithfull chromosome segregation in …
Introduction Conventional DCs (cDCs) are highly potent antigen-presenting cells, which initiate and orchestrate adaptive immunity (Steinman, 2012), whereas plasmacytoid DCs (pDCs) detect pathogen-derived nucleic acids, thereby producing type I interferon …
Introduction Whereas the vast majority of mitochondrial proteins are encoded within the nucleus and imported into mitochondria by mechanisms studied in great detail (Chacinska et al, 2009; Becker et al, 2019), less is known about the transport of nucleic …
Article: de Back TR, Wu T, Schafrat PJ, ten Hoorn S, Tan M, He L, van Hooff SR, Koster J, Nijman LE, Vink GR, Beumer IJ, Elbers CC, Lenos KJ, Sommeijer DW, Wang X, Vermeulen L (2024 May 23) A consensus molecular subtypes classification strategy for …
Introduction RNAi is post-transcriptional regulation of protein expression, wherein small non-coding double-stranded (ds) RNAs such as exogenous siRNA and endogenous miRNA target and induce degradation of homologous intracellular mRNA (1, 2, 3). Although …
Introduction Crohn’s disease (CD) and ulcerative colitis (UC), which are usually referred to as inflammatory bowel disease (IBD), are a group of complex disorders characterized by chronic relapsing intestinal inflammation (1). The twin cohort estimated an …
Introduction Schizophrenia (SZ) is a neurodevelopmental disorder that affects cognitive processes and social behavior (Harrison & Weinberger, 2005; Lewis & Sweet, 2009). Unlike other neuropathologies, the brains of SZ patients do not display …
Introduction Amyotrophic lateral sclerosis (ALS) is characterised by the loss of upper and lower motor neurons leading to symptoms such as muscle weakness and paralysis. A plethora of evidence supports a clinical, pathologic, and genetic overlap between …
