Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
Vincent El Ghouzzi, Gaëlle Boncompain
Abstract
Association genetic studies and genome-scale CRISPR screens have recently identified ARF3 and TMEM251/LYSET/GCAF as Golgi-resident factors essential to brain and skeletal development. Here we discuss how even though the consequences of mutations in these genes affect endosomal and lysosomal compartments, the problem originates in the Golgi complex and may involve either the identity of the carrier vesicles or that of cargo molecules.
Topics & Concepts
EndosomeBiologyGolgi apparatusGeneCRISPRGenomeComputational biologyCell biologyGeneticsCellCellular transport and secretionErythrocyte Function and PathophysiologyCalcium signaling and nucleotide metabolism