Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development.
Where this comes from
- Record sourced from PubMed, PMID 36456556.
- Also identified by DOI 10.1038/s41467-022-35101-y and PMC identifier 9715697.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Head
- Brain