Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

N-linked glycosylation is a complex, co-and post-translational series of events that connects
metabolism to signaling in almost all cells. Metabolic assembly of N-linked glycans spans …

Animal models contribute greatly to our understanding of brain development and function as
well as its dysfunction in neurological diseases. Epilepsy research is a very good example of …

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for
protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key …

Developmental and epileptic encephalopathies (DEEs) can be primarily attributed to genetic
causes. The genetic landscape of DEEs has been largely shaped by the rise of high …

Metabolism not only produces energy necessary for the cell but is also a key regulator of
several cellular functions, including pluripotency and self-renewal. Nucleotide sugars (NSs) …

UDP-glucose pyrophosphorylase 2 (UGP2), the enzyme that synthesizes uridine
diphosphate (UDP)-glucose, rests at the convergence of multiple metabolic pathways …

Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐
glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme …

Invasive aspergillosis is one of the most serious clinical invasive fungal infections, resulting
in a high case fatality rate among immunocompromised patients. The disease is caused by …

Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental
disorder with progressive congenital microcephaly and early death. SMPD4 encodes a …