Primary cilia are microtubule-based, non-motile sensory organelles present in most types of
growth-arrested eukaryotic cells. They are transduction hubs that receive and transmit …

Ciliogenesis describes the assembly of cilia in interphase cells. Several hundred proteins
have been linked to ciliogenesis, which proceeds through a highly coordinated multistage …

Members of the NSL histone acetyltransferase complex are involved in multiorgan
developmental syndromes. While the NSL complex is known for its importance in early …

Macroautophagy/autophagy is a self-degradative process necessary for cells to maintain
their energy balance during development and in response to nutrient deprivation …

Primary cilia are sensory organelles that utilize the compartmentalization of membrane and
cytoplasm to communicate signaling events, and yet, how the formation of a cilium is …

The balance of protein synthesis and degradation is finely regulated and influences cellular
homeostasis and biological processes (eg, embryonic development and neuronal plasticity) …

The homotypic fusion and protein sorting (HOPS) complex is a conserved, multi-subunit
tethering complex in eukaryotic cells. In yeast and mammalian cells, the HOPS subunit …

Abstract Background ZFYVE19 (Zinc Finger FYVE-Type Containing 19) mutations have most
recently been associated to a novel type of high gamma-glutamyl transpeptidase (GGT), non …

Purpose Oral-facial-digital (OFD) syndromes are genetically heterogeneous developmental
disorders, caused by pathogenic variants in genes involved in primary cilia formation and …

The OFD1 gene was initially identified as the gene responsible for the X-linked dominant
male lethal OFD type I syndrome, a developmental disorder ascribed to cilia disfunction. The …