Defects in early secretory pathway transport machinery components and neurodevelopmental disorders.

摘要: The early secretory pathway, provisionally comprising of vesicular traffic between the endoplasmic reticulum (ER) and Golgi apparatus, occurs constitutively in mammalian cells. Critical for a constant supply plasma membrane (PM) materials, pathway is presumably essential general cellular function survival. Neurons exhibit high intensity dynamics protein/lipid trafficking, with differential polarized trafficking towards somatodendritic axonal PM domains. Mutations genes encoding machinery components are known to result neurodevelopmental or neurological disorders disease manifestation life. Here, such rare associated autosomal recessive mutations coat proteins, tethering complexes fusion machineries responsible summarily discussed. These affected subunits protein complex I II, transport particle (TRAPP) complexes, members YIP1 domain family (YIPF) SNAP receptor (SNARE) member. Why ubiquitously present acting could specifically affect neurodevelopment addressed, plausible underlying etiologies neuropathological mechanisms resulting from these explored.