13:1737?3. two. Aebi M, Hennet T. Congenital problems of

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Nogo-B receptor is important for Hygromycin B custom synthesis cellular dolichol biosynthesis and protein N-glycosylation. 2007;80(3):433?0.20.21.22.23.24.Lieu MT, Ng BG, Rush PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/25852654 JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Extreme, fatal multisystem manifestations inside a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013;110(four):484?. Harrison KD, Park EJ, Gao N, Kuo A, Rush JS, Waechter CJ, Lehrman MA, Sessa WC. Nogo-B receptor is important for cellular dolichol biosynthesis and protein N-glycosylation. Embo J. 2011;30(12):2490?00. five. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated inside a congenital glycosylation disorder. Cell. 2010;142(2):203?7. 6. Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S et al. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet. 2007;80(3):433?0.20.21.22.23.24.Lieu MT, Ng BG, Rush PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/25852654 JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Severe, fatal multisystem manifestations inside a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013;110(4):484?. Grundahl JE, Guan Z, Rust S, Reunert J, Muller B, Du Chesne I, Zerres K, Rudnik-Schoneborn S, Ortiz-Bruchle N, Hausler MG, et al. Life with too a lot polyprenol: polyprenol reductase deficiency. Mol Genet Metab. 2012;105(4):642?1. Kasapkara CS, Tumer L, Ezgu FS, Hasanoglu A, Race V, Matthijs G, Jaeken J. SRD5A3-CDG: a patient with a novel mutation. Eur J Paediatr Neurol. 2012;16(five):554?. Park EJ, Grabinska KA, Guan Z, Stranecky V, Hartmannova H, Hodanova K, Baresova V, Sovova J, Jozsef L, Ondruskova N, et al. Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. Cell Metab. 2014;20(3):448?7. Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, et al. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is connected with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am J Hum Genet. 2011;88(two):207?5. Zuchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, et al. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet. 2011;88(two):201?. Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, et al. Congenital problems of glycosylation variety Ig is defined by a deficiency in dolichyl-P-mannose: Man7GlcNAc2-PP-dolichyl mannosyltransferase. J Biol Chem. 2002;277(28):25815?two. Chantret I, Fasseu M, Zaoui K, Le Bizec C, Sadou Yaye H, Dupre T, Moore SE. Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) for the duration of protein N-glycosylation in human HepG2 cells.