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Metabolic clogging of mannose triggers dNTP loss and genomic instability in human cancer cells.
Harada Y, Mizote Y, Suzuki T, Hirayama A, Ikeda S, Nishida M, Hiratsuka T, Ueda A, Imagawa Y, Maeda K, Ohkawa Y, Murai J, Freeze HH, Miyoshi E, Higashiyama S, Udono H, Dohmae N, Tahara H, Taniguchi N. Harada Y, et al. Among authors: freeze hh. Elife. 2023 Jul 18;12:e83870. doi: 10.7554/eLife.83870. Elife. 2023. PMID: 37461317 Free PMC article.
GLUT1 is a highly efficient L-fucose transporter.
Ng BG, Sosicka P, Xia Z, Freeze HH. Ng BG, et al. Among authors: freeze hh. J Biol Chem. 2023 Jan;299(1):102738. doi: 10.1016/j.jbc.2022.102738. Epub 2022 Nov 22. J Biol Chem. 2023. PMID: 36423686 Free PMC article.
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ, Ng BG, Jennions E, Blomqvist M, Sandqvist Wiklund A, Hedberg-Oldfors C, Gonzalez CR, Freeze HH, Ygberg S, Eklund EA. Xia ZJ, et al. Among authors: freeze hh. JIMD Rep. 2022 Sep 21;64(1):79-89. doi: 10.1002/jmd2.12338. eCollection 2023 Jan. JIMD Rep. 2022. PMID: 36636598 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: freeze hh. 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
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. Dang Do AN, et al. Among authors: freeze hh. J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36719165 Free PMC article.
319 results