Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China-Reference-Cited by-同舟云学术

Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China

Published:2014-09-19 Issue:12 Volume:30 Page:2109-2114
ISSN:0256-7040
Container-title:Child's Nervous System
language:en
Short-container-title:Childs Nerv Syst

Author:

Shu Jianbo,Lv Xiqian,Jiang Shuzhen,Zhang Yuqin,Zhang Chunhua,Meng Yingtao,Situ Aiming,Xu Haiquan,Song Li

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00381-014-2541-1.pdf

Reference17 articles.

1. van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC (2012) ß-Ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta 1822(7):1096–1108

2. Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB (2007) Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. Pharmacogenet Genomics 17(11):973–987

3. Kuhara T, Ohse M, Inoue Y, Shinka T (2009) Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. J Mass Spectrom 44(2):214–221

4. van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH (2004) ß-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet 13(22):2793–2801

5. Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB (2014) Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the p.977G > A (p.R326Q) mutation. J Inherit Metab Dis 14[Epub ahead of print]

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency;Advances in Molecular Pathology;2024-08

2. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain;Molecular Genetics and Metabolism;2022-09

3. β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity;Molecular Genetics and Metabolism;2022-07

4. Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant;Frontiers in Pediatrics;2022-02-21

5. Rapid screening of UPB1 gene variations by high resolution melting curve analysis;Experimental and Therapeutic Medicine;2021-02-25