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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. Among authors: lupashin vv. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5. J Inherit Metab Dis. 2023. PMID: 37711075
Assembly of the ER to Golgi SNARE complex requires Uso1p.
Sapperstein SK, Lupashin VV, Schmitt HD, Waters MG. Sapperstein SK, et al. Among authors: lupashin vv. J Cell Biol. 1996 Mar;132(5):755-67. doi: 10.1083/jcb.132.5.755. J Cell Biol. 1996. PMID: 8603910 Free PMC article.
Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.
Gokhale A, Larimore J, Werner E, So L, Moreno-De-Luca A, Lese-Martin C, Lupashin VV, Smith Y, Faundez V. Gokhale A, et al. Among authors: lupashin vv. J Neurosci. 2012 Mar 14;32(11):3697-711. doi: 10.1523/JNEUROSCI.5640-11.2012. J Neurosci. 2012. PMID: 22423091 Free PMC article.
84 results