Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Mus Musculus (ncbitaxon:10090)
SUBMITTER: Jun Yang
PROVIDER: MSV000089334 | MassIVE | Fri Apr 29 07:02:00 BST 2022
SECONDARY ACCESSION(S): PXD033564
REPOSITORIES: MassIVE
Clark Anna M AM Yu Dongmei D Neiswanger Grace G Zhu Daniel D Zou Junhuang J Maschek J Alan JA Burgoyne Thomas T Yang Jun J
JCI insight 20240109 1
Syndromic ciliopathies and retinal degenerations are large heterogeneous groups of genetic diseases. Pathogenic variants in the CFAP418 gene may cause both disorders, and its protein sequence is evolutionarily conserved. However, the disease mechanism underlying CFAP418 mutations has not been explored. Here, we apply quantitative lipidomic, proteomic, and phosphoproteomic profiling and affinity purification coupled with mass spectrometry to address the molecular function of CFAP418 in the retina ...[more]