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.

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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]

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

2. 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

3. 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

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

5. In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase;Journal of Clinical Medicine;2020-07-22