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Insights into the regulation of cellular Mn2+ homeostasis via TMEM165.
Vicogne D, Beauval N, Durin Z, Allorge D, Kondratska K, Haustrate A, Prevarskaya N, Lupashin V, Legrand D, Foulquier F. Vicogne D, et al. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166717. doi: 10.1016/j.bbadis.2023.166717. Epub 2023 Apr 14. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37062452 Free PMC article.
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 Free PMC article.
COG8 deficiency causes new congenital disorder of glycosylation type IIh.
Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH. Kranz C, et al. Hum Mol Genet. 2007 Apr 1;16(7):731-41. doi: 10.1093/hmg/ddm028. Epub 2007 Mar 1. Hum Mol Genet. 2007. PMID: 17331980
Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH. Ng BG, et al. Mol Genet Metab. 2007 Jun;91(2):201-4. doi: 10.1016/j.ymgme.2007.02.011. Epub 2007 Mar 28. Mol Genet Metab. 2007. PMID: 17395513 Free PMC article.
89 results