biostudies-literatureSumya FTNational Institute of General Medical SciencesNIGMS NIH HHS733048https://www.ebi.ac.uk/biostudies/studies/S-EPMC8484713biostudies-literatureUnknown12Conserved Oligomeric Golgi (COG) is an octameric protein complex that orchestrates intra-Golgi trafficking of glycosylation enzymes. Over a hundred individuals with 31 different COG mutations have been identified until now. The cellular phenotypes and clinical presentations of COG-CDGs are heterogeneous, and patients primarily represent neurological, skeletal, and hepatic abnormalities. The establishment of a cellular COG disease model will benefit the molecular study of the disease, explaining the detailed sequence of the interplay between the COG complex and the trafficking machinery. Moreover, patient fibroblasts are not a good representative of all the organ systems and cell types that are affected by COG mutations. We developed and characterized cellular models for human COG4 mutationFrontiers in geneticsDevelopment and Initial Characterization of Cellular Models for COG Complex-Related CDG-II Diseases.PMC8484713R01 GM083144UnassignedPokrovskaya IDLupashin VSumya FTfalseDevelopment and Initial Characterization of Cellular Models for COG Complex-Related CDG-II Diseases.Conserved Oligomeric Golgi (COG) is an octameric protein complex that orchestrates intra-Golgi trafficking of glycosylation enzymes. Over a hundred individuals with 31 different COG mutations have been identified until now. The cellular phenotypes and clinical presentations of COG-CDGs are heterogeneous, and patients primarily represent neurological, skeletal, and hepatic abnormalities. The establishment of a cellular COG disease model will benefit the molecular study of the disease, explaining the detailed sequence of the interplay between the COG complex and the trafficking machinery. Moreover, patient fibroblasts are not a good representative of all the organ systems and cell types that are affected by COG mutations. We developed and characterized cellular models for human COG4 mutation2021-01-01T00:00:00Z20212026-05-08T18:10:57.23Z2022-02-11T11:49:17.028ZS-EPMC84847133460339210.3389/fgene.2021.733048