Skd3 (human ClpB) is a potent ATP-dependent mitochondrial protein disaggregase that is activated by the rhomboid protease, PARL, and inactivated by MGCA7-linked mutations.
Faithful models of RMC require SMARCB1 loss for survival, and genetic and small-molecule screens identify inhibition of the ubiquitin-proteasome system (UPS) as a potential therapeutic approach for SMARCB1 deficient cancers.
Genetic mouse models combined with single-cell RNA sequencing reveal the essential role of SRSF2 in directing MyoD progenitors to distinct skeletal muscle domains and controlling their differentiation through the regulation of targeted genes and alternative splicing during skeletal muscle development.
Nearly half of bladder cancers of solid organ transplant recipients harbor papillomaviruses or polyomaviruses, with many tumors showing evidence of clonal viral integration and viral oncogene effects on tumor gene expression patterns.
Antoine Coulon, Matthew L Ferguson ... Daniel R Larson
Real-time single-molecule visualization of transcription and splicing in living cells reveals that RNA synthesis and processing can occur through multiple pathways on the same gene.
Specific glutamylation of some α-tubulin isotypes affects kinesin-1 localization and transport processes that depend on it, but their absence can speed up transport, possibly explaining why some large cells express α-tubulin isotypes that are not glutamylated.
Susanne Roosing, Matan Hofree ... Joseph G Gleeson
A supervised learning approach on a high-content genome-wide siRNA screen has identified 591 likely candidates for ciliopathies and facilitated in the discovery of KIAA0586 mutations in individuals with Joubert syndrome.
