The life of eukaryotic cells requires the transport of lipids between membranes, which are
separated by the aqueous environment of the cytosol. Vesicle-mediated traffic along the …

The occurrence of protein mediated lipid transfer between intracellular membranes has
been known since the late 1960's. Since these early discoveries, numerous proteins …

Congenital disorders of glycosylation (CDG) are one group among the disorders of
glycosylation. The latter comprise defects associated with hypoglycosylation but also defects …

This review focuses on the classification, diagnosis and natural history of congenital
neutropenia (CN). CN encompasses a number of genetic disorders with chronic neutropenia …

The VPS13 gene family consists of VPS13A–D in mammals. Although all four genes have
been linked to human diseases, their cellular functions are poorly understood, particularly …

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

To characterize the genetic basis of facial features in Latin Americans, we performed a
genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark …

Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental
deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia …

Members of the VPS13 family are associated with various human diseases. In particular, the
loss of function of VPS13A leads to chorea-acanthocytosis (ChAc), a rare …

The evolutionarily conserved VPS13 family proteins have been implicated in several cellular
processes. Mutations in each of the four human VPS13s cause neurodevelopmental or …