Genetics, Gene Therapy & Genetic Disease
Small molecule inhibitors and a kinase-dead expressing mouse model demonstrate that the kinase activity of Chk1 is essential for mouse embryos and cancer cellsThe study use small molecule inhibitors and a kinase-dead expressing mouse model to demonstrate that the kinase activity of Chk1 is essential for mouse embryos and cancer cells.
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levelsThe work highlights the link between dysfunction of the RNA exosome, ribosome biogenesis, p53-dependent signalling, and apoptosis. Pontocerebellar hypoplasia caused by mutations of the exosome subunits could be classified as a ribosomopathy.
CDKL3 promotes osteosarcoma progression by activating Akt/PKBThis study demonstrates that CDKL3 regulates Akt activation and its downstream targets to promote OS progression, creating a therapeutically targetable vulnerability in treatment of OS.
MagnEdit—interacting factors that recruit DNA-editing enzymes to single base targetsThis study reports a new, non-covalent strategy—called MagnEdit—that attracts the DNA cytosine deaminase APOBEC3B to a Cas9-directed site for C-to-T editing.
The iron–sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activationThe iron–sulfur cluster helicase DDX11 promotes the generation of ssDNA and the phosphorylation of CHK1 at serine-345, possibly by unwinding replication-dependent DNA secondary structures.
Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2This study reveals a role for the cohesin modifier ESCO2 for maintenance of sister chromatid cohesion in mammalian meiosis and a specific weakness of cohesion within male sex chromosome chromatin
Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasisThis study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism
TRAP1 chaperone protein mutations and autoinflammationThis study identifies patients with autoinflammation and mutations affecting the mitochondrial/ER protein chaperone TRAP1, either alone or digenic, with MEFV mutation possibly synergizing to produce severe disease. TRAP1 mutations lead to increased mitochondrial reactive oxygen species and may contribute to autoinflammation.
![Distinct signals and immune cells drive liver pathology and glomerulonephritis in ABIN1[D485N] mice](https://www.life-science-alliance.org/sites/default/files/styles/lsa_thumbnail_image/public/externals/1826ba9c9b29cdb17704ada32e87ee01.jpg?itok=uRNfFQLZ)
Distinct signals and immune cells drive liver pathology and glomerulonephritis in ABIN1[D485N] miceThis article shows that liver and kidney damage in a lupus-prone mouse line occurs by different mechanisms and that only drugs targeting core components of signaling pathway, such as IRAK4, are able to suppress all facets of the disease.
Unfolded protein-independent IRE1 activation contributes to multifaceted developmental processes in ArabidopsisThe Arabidopsis unfolded protein response transducer IRE1 contributes to male gametophyte development using an alternative activation mechanism bypassing the unfolded protein-sensing domain.