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 …

Secretory proteins are transported from the endoplasmic reticulum (ER) to the Golgi complex
in carriers that are formed by the concerted activities of cytoplasmic proteins in the coat …

Vesicle biogenesis, trafficking and signaling via Endoplasmic reticulum-Golgi network
support essential developmental processes and their disruption lead to neurodevelopmental …

Next-generation sequencing has greatly accelerated the discovery of rare human genetic
diseases. Nearly 45% of patients have variants associated with known diseases but the …

Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis …

Neuronal alternative splicing is a key gene regulatory mechanism in the brain. However, the
spliceosome machinery is insufficient to fully specify splicing complexity. In considering the …

Dysfunction of protein trafficking has been intensively associated with neurological
diseases, including neurodegeneration, but whether and how protein transport contributes …

How do aberrations in widely expressed genes lead to tissue‐selective hereditary
diseases? Previous attempts to answer this question were limited to testing a few candidate …

Membrane and secretory proteins are essential for almost every aspect of cellular function.
These proteins are incorporated into ER-derived carriers and transported to the Golgi before …

Hereditary sensory and autonomic neuropathy 9 (HSAN9) is a rare fatal neurological
disease caused by mis-and nonsense mutations in the gene encoding for Tectonin β …