Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Neuronal SNAREs and their key regulators together drive synaptic vesicle exocytosis and
synaptic transmission as a single integrated membrane fusion machine. Human pathogenic …

Although it is well known that the ancestors of modern humans and Neanderthals admixed,
the effects of gene flow on the Neanderthal genome are not well understood. We develop …

Membrane proteins with multiple transmembrane domains play critical roles in cell
physiology, but little is known about the machinery coordinating their biogenesis at the …

Abnormal distribution of cellular cholesterol is associated with numerous diseases, including
cardiovascular and neurodegenerative diseases. Regulated transport of cholesterol is …

Covalent chemical modifications of cellular RNAs directly impact all biological processes.
However, our mechanistic understanding of the enzymes catalyzing these modifications …

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The
list of monogenic forms of ID has increased rapidly in recent years thanks to the …

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and
often complex dystonia (DYT28). Key characteristics of typical disease include focal motor …

Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare,
heterogeneous disease arising from the decreased production of neurons during brain …