Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development

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 compartm...

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Bibliographic Details
Published inNature communications Vol. 13; no. 1; p. 7397
Main Authors El Ghouzzi, Vincent, Boncompain, Gaelle
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 01.12.2022
Nature Publishing Group
Nature Portfolio
Subjects
631/80/313
692/699
Brain
Cellular Biology
Comment
CRISPR
Enzymes
Genetics
Genomes
Genotype & phenotype
Golgi apparatus
Head
Homeostasis
Human genetics
Humanities and Social Sciences
Life Sciences
multidisciplinary
Mutation
Organogenesis
Protein Transport
Proteins
Science
Science (multidisciplinary)
Subcellular Processes
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Summary: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.
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ISSN:2041-1723
2041-1723
DOI:10.1038/s41467-022-35101-y