Newest Articles
Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathologyThis study has established a versatile human SMN2 reporter line for drug screening and identified a novel strategy of targeting cysteine proteases for rescuing SMA pathological phenotypes.
let-7 coordinates the transition to adulthood through a single primary and four secondary targetsAlthough miRNAs may act through regulation of numerous targets, this study shows that the Caenorhabditis elegans let-7 miRNA promotes the juvenile-to-adult transition through repression of LIN41 alone, thereby activating four LIN41 targets that function in pairs to execute distinct developmental functions.
Functional inhibition of acid sphingomyelinase disrupts infection by intracellular bacterial pathogensMany intracellular pathogens hijack cholesterol. Inhibiting acid sphingomyelinase alters cholesterol traffic to target different intracellular bacteria, signifying a host-directed approach for treating infectious disease.
Sex-regulated gene dosage effect of PPARα on synaptic plasticityDifferences in PPARα expression between males and females affect the regulation of GluA1 expression and synaptic plasticity in mice.
Human DNA polymerase delta is a pentameric holoenzyme with a dimeric p12 subunitThe subunit p12 of human DNA polymerase delta (hPolδ) can dimerize, facilitating its interaction with PCNA and suggesting that hPolδ exists in a pentameric form in the cell.
Dependence on Myb expression is attenuated in myeloid leukaemia with N-terminal CEBPA mutationsWe show that for acute myeloid leukaemias with CEBPA mutations, the dependency of leukaemia growth and differentiation on the Myb transcription factor is related to the combination of N- and C-terminal mutations involved and how this affects overall gene expression.
Gene editing enables T-cell engineering to redirect antigen specificity for potent tumor rejectionTargeted integration of a tumor-reactive T-cell receptor into the TRAC locus using CRISPR-Cas9 and AAV6 redirects primary human T cells against tumor cells in vitro and in vivo.
Structural basis of guanine nucleotide exchange for Rab11 by SH3BP5The structure of the SH3BP5–Rab11a complex and structure-based mutational analyses reveal structural basis of nucleotide exchange for Rab11 by its specific guanine nucleotide exchange factor.
Expanding the repertoire of glucocorticoid receptor target genes by engineering genomic response elementsThis study shows that addition of a single transcription factor binding site can be sufficient to convert a gene into a glucocorticoid receptor target.
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesThis work demonstrates that pathogenic variants in PISD cause mitochondrial disease and suggests a novel mechanistic link whereby impaired lipid content in the inner mitochondrial membrane alters the activity of inner mitochondrial membrane proteases.
