The proper regulation of apoptosis is essential for the survival of multicellular organisms.
Furthermore, excessive apoptosis can contribute to neurodegenerative diseases, anaemia …

Deubiquitylating enzymes (DUBs), act downstream of ubiquitylation. As such, these post-
post-translational modifiers function as the final arbitrators of a protein substrate's …

Although women experience significantly higher tau burden and increased risk for
Alzheimer's disease (AD) than men, the underlying mechanism for this vulnerability has not …

With a wealth of disease-associated DNA variants being recently reported, the challenges of
providing their functional characterization are mounting. Previously, as part of a large …

Loss-of-function mutations in UPF3B result in variable clinical presentations including
intellectual disability (ID, syndromic and non-syndromic), autism, childhood onset …

Protein post‐translational modification by ubiquitin represents a complex signaling system
that regulates many cellular events including proteostasis to intercellular communications …

A permissive chromatin environment coupled to hypertranscription drives the rapid
proliferation of embryonic stem cells (ESCs) and peri-implantation embryos. We carried out …

Mutations in more than a hundred genes have been reported to cause X-linked recessive
intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked …

The mesenchymal (MES) subtype of glioblastoma (GBM) stem cells (GSCs) represents a
subpopulation of cancer cells that are notorious for their highly aggressive nature and …

The discovery of mutations causing human disease has so far been biased toward protein-
coding regions. Having excluded all annotated coding regions, we performed targeted …