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Sökning: WFRF:(Ito Kaoru) > (2010-2014) > Clinical, biochemic...

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FältnamnIndikatorerMetadata
00004329naa a2200565 4500
001oai:DiVA.org:uu-234170
003SwePub
008141014s2014 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2341702 URI
0247 a https://doi.org/10.1007/s10545-014-9682-y2 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Nakajima, Yoko4 aut
2451 0a Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
264 c 2014-02-14
264 1b Wiley,c 2014
338 a electronic2 rdacarrier
500 a Corrections in: Journal of Inherited Metabolic Disease, 2014 vol. 37, issue 6, page 1023. DOI: 10.1007/s10545-014-9754-z
520 a beta-ureidopropionase (beta UP) deficiency is an autosomal recessive disease characterized by N-carbamyl-beta-amino aciduria. To date, only 16 genetically confirmed patients with beta UP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 Japanese beta UP deficient patients. In this group of patients, three novel missense mutations (p.G31S, p.E271K, and p.I286T) and a recently described mutation (p.R326Q) were identified. The p.R326Q mutation was detected in all 13 patients with eight patients being homozygous for this mutation. Screening for the p.R326Q mutation in 110 Japanese individuals showed an allele frequency of 0.9 %. Transient expression of mutant beta UP enzymes in HEK293 cells showed that the p.E271K and p.R326Q mutations cause profound decreases in activity (a parts per thousand currency sign 1.3 %). Conversely, beta UP enzymes containing the p.G31S and p.I286T mutations possess residual activities of 50 and 70 %, respectively, suggesting we cannot exclude the presence of additional mutations in the non-coding region of the UPB1 gene. Analysis of a human beta UP homology model revealed that the effects of the mutations (p.G31S, p.E271K, and p.R326Q) on enzyme activity are most likely linked to improper oligomer assembly. Highly variable phenotypes ranging from neurological involvement (including convulsions and autism) to asymptomatic, were observed in diagnosed patients. High prevalence of p.R326Q in the normal Japanese population indicates that beta UP deficiency is not as rare as generally considered and screening for beta UP deficiency should be included in diagnosis of patients with unexplained neurological abnormalities.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Meijer, Judith4 aut
7001 a Dobritzsch, Doreenu Uppsala universitet,Biokemi4 aut0 (Swepub:uu)dordo526
7001 a Ito, Tetsuya4 aut
7001 a Meinsma, Rutger4 aut
7001 a Abeling, Nico G. G. M.4 aut
7001 a Roelofsen, Jeroen4 aut
7001 a Zoetekouw, Lida4 aut
7001 a Watanabe, Yoriko4 aut
7001 a Tashiro, Kyoko4 aut
7001 a Lee, Tomoko4 aut
7001 a Takeshima, Yasuhiro4 aut
7001 a Mitsubuchi, Hiroshi4 aut
7001 a Yoneyama, Akira4 aut
7001 a Ohta, Kazuhide4 aut
7001 a Eto, Kaoru4 aut
7001 a Saito, Kayoko4 aut
7001 a Kuhara, Tomiko4 aut
7001 a van Kuilenburg, Andre B. P.4 aut
7102 a Uppsala universitetb Biokemi4 org
7730 t Journal of Inherited Metabolic Diseased : Wileyg 37:5, s. 801-812q 37:5<801-812x 0141-8955x 1573-2665
8564 u https://uu.diva-portal.org/smash/get/diva2:755826/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://link.springer.com/content/pdf/10.1007%2Fs10545-014-9682-y.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-234170
8564 8u https://doi.org/10.1007/s10545-014-9682-y

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