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A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T. Kranz C, et al. J Clin Invest. 2001 Dec;108(11):1613-9. doi: 10.1172/JCI13635. J Clin Invest. 2001. PMID: 11733556 Free PMC article.
We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is caused by a defect in the gene MPDU1 …
We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, fail …
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M. Schenk B, et al. J Clin Invest. 2001 Dec;108(11):1687-95. doi: 10.1172/JCI13419. J Clin Invest. 2001. PMID: 11733564 Free PMC article.
Transfer of incomplete oligosaccharides to protein was detected. Sequence analysis of the Lec35/MPDU1 gene, known to be involved in the use of dolichylphosphomannose and dolichylphosphoglucose, revealed mutations in all three patients. Retroviral-based expression of the no …
Transfer of incomplete oligosaccharides to protein was detected. Sequence analysis of the Lec35/MPDU1 gene, known to be involved in t …
Unexpected basis for impaired Glc3Man9GlcNAc2-P-P-dolichol biosynthesis by elevated expression of GlcNAc-1-P transferase.
Gao N, Shang J, Lehrman MA. Gao N, et al. Glycobiology. 2008 Jan;18(1):125-34. doi: 10.1093/glycob/cwm109. Epub 2007 Oct 3. Glycobiology. 2008. PMID: 17913728
Unexpectedly,we noticed similarities between the phenotypes of GPT overexpressers and of CHO-K1 cells lacking Lec35p (encoded by MPDU1, the congenital disorder of glycosylation(CDG)-If locus), which is required for utilization of MPD and GPD. ...Since the mam …
Unexpectedly,we noticed similarities between the phenotypes of GPT overexpressers and of CHO-K1 cells lacking Lec35p (encoded by MPDU1 …
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.
Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH. Eklund EA, et al. Glycobiology. 2005 Nov;15(11):1084-93. doi: 10.1093/glycob/cwj006. Epub 2005 Aug 3. Glycobiology. 2005. PMID: 16079417
C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MP …
C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in …
[Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If].
Zhang H, Zhang F, Liu M, Guo H. Zhang H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):731-734. doi: 10.3760/cma.j.cn511374-20201026-00750. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35810431 Chinese.
OBJECTIVE: To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If). METHODS: Whole exome sequencing (WES) was carried out for the patient. ...CONCLUSION: Above finding has enriched the mutational spectrum of CDG …
OBJECTIVE: To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If). METHODS: …
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E, Martens K, Geuzens E, Matthijs G. Schollen E, et al. Eur J Hum Genet. 2002 Oct;10(10):643-8. doi: 10.1038/sj.ejhg.5200858. Eur J Hum Genet. 2002. PMID: 12357336
Primers were designed and conditions were optimised for the analysis of each exon of the PMM2, MPI, ALG6, ALG3, DPM1 and MPDU1 genes. Forty previously described PMM2 mutations were tested to evaluate the method. ...A similar DHPLC approach was also applied to CDG-Ib, CDG-I …
Primers were designed and conditions were optimised for the analysis of each exon of the PMM2, MPI, ALG6, ALG3, DPM1 and MPDU1 genes. …