Mammalian development demands precision. Millions of molecules must be properly
located in temporal order, and their function regulated, to orchestrate important steps in cell …

Human developmental disorders encompass a wide range of debilitating physical
conditions and intellectual disabilities. Perturbation of protein kinase signalling underlies the …

Conserved protein kinases with core cellular functions have been frequently redeployed
during metazoan evolution to regulate specialized developmental processes. The Ser/Arg …

In female mice, the gene dosage from X chromosomes is adjusted by a process called X
chromosome inactivation (XCI) that occurs in two steps. An imprinted form of XCI (iXCI) that …

Abstract Tripartite motif-containing 28 (TRIM28) is an E3 ubiquitin ligase harboring multiple
cellular functions. We found that the TRIM28 protein is frequently overexpressed in patients …

Reversible modification of proteins with linkage-specific ubiquitin chains is critical for
intracellular signaling. Information on physiological roles and underlying mechanisms of …

Proteins can be targeted for degradation by engineering biomolecules that direct them to the
eukaryotic ubiquitination machinery. For instance, the fusion of an E3 ubiquitin ligase to a …

The E3 ubiquitin ligase RNF12 plays essential roles during development, and the gene
encoding it, RLIM, is mutated in the X-linked human developmental disorder Tonne …

In mice, imprinted X chromosome inactivation (iXCI) of the paternal X in the pre-implantation
embryo and extraembryonic tissues is followed by X reactivation in the inner cell mass (ICM) …

ABSTRACT O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) is an essential
enzyme that modifies proteins with O-GlcNAc. Inborn OGT genetic variants were recently …