Nitin H Shirole, Debjani Pal ... Raffaella Sordella
Genetic and molecular analysis of TP53 exon-6 truncating mutations reveal that these mutations, contrary to current belief, promote tumorigenesis and point towards strategies for treating cancers driven by these prevalent mutations.
Ryan C Vignogna, Mariateresa Allocca ... Gregory I Lang
Experimental evolution of yeast models of congenital disorders of glycosylation reveals that reduction, but not loss, of phosphoglucomutase activity best compensates for impaired phosphomannomutase activity.
John D Lueck, Adam L Mackey ... Christopher A Ahern
Building on previous work (Pless, 2013), we argue that side-chain 'flip out' is a key event in potassium channel C-type inactivation, and propose a new method for encoding multiple noncanonical amino acids and controlling protein stoichiometry.
Analyses of discovered cancer-driving nucleotides (CDNs) reveal their evolutionary, biochemical, and therapeutic characteristics that are often shared among multiple cancer types.
The HITS-CLIP sequencing method is used to demonstrate that cryptic exons can detect messenger RNA that contains nonsense mutations, and then cause this RNA to decay, which shows that these exons are involved in maintaining the electrical balance of neurons and, possibly, preventing epilepsy.
Expression of the disease gene DUX4 inhibits RNA quality control in skeletal muscle, thereby stabilizing thousands of aberrant RNAs, including its own transcript.
Zfp106 functions as an RNA binding protein, binds directly to GGGGCC RNA repeats, is required in motor neurons to prevent ALS-like neurodegeneration in mice, and can suppress neurotoxicity in an established fly model of ALS.
Systematic analyses of natural variants and artificial mutants establish functional landscapes of BRCA1 for homology-directed repair (HDR) and therapy resistance and identify the BRCA1-PALB2 interaction as a key control point for HDR pathway choice.
