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Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Autor: Perez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP

Publikováno v: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Pyrimidine nucleotides are essential for a vast number of cellular processes and dysregulation of pyrimidine metabolism has been associated with a variety of clinical abnormalities. Inborn errors of pyrimidine metabolism affecting enzymes in the pyri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::405c6c09d9677c3020b542381fa50593
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15620

Genetic Analysis of the First 4 Patients with β-Ureidopropionase Deficiency.

Autor: van Kuilenburg, A.B. P.¹ (AUTHOR) a.b.vanKuilenburg@amc.uva.ni, Meinsma, R.¹ (AUTHOR), Assman, B.² (AUTHOR), Hoffman, G.F.³ (AUTHOR), Voit, T.⁴ (AUTHOR), Ribes, A.⁵ (AUTHOR), Lorente, I.⁶ (AUTHOR), Busch, R.⁷ (AUTHOR), Mayatepek, E.² (AUTHOR), Abeling, N.G. G. M.¹ (AUTHOR), Wevers, R.A.⁸ (AUTHOR), Rutsch, F.⁷ (AUTHOR), van Gennip, A.H.⁹ (AUTHOR)

Publikováno v: Nucleosides, Nucleotides & Nucleic Acids. Sep2006, Vol. 25 Issue 9-11, p1093-1098. 6p. 1 Diagram, 1 Chart.

Publisher's note. Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing

Autor: Meijer, J., Nakajima, Y., Zhang, C., Meinsma, R., Ito, T., van Kuilenburg, A. B. P.

Publikováno v: Nucleosides, nucleotides & nucleic acids, 33(4-6), 253-260. Marcel Dekker Inc.

β-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyzes the conversion of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid to β-alanine and β-aminoisobutyric acid, respectively, and ammonia and CO2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::e7e9a01cadabbb3c5ef32ca945e13e0d
https://pure.amc.nl/en/publications/publishers-note-identification-of-a-novel-synonymous-mutation-in-the-human-ureidopropionase-gene-upb1-affecting-premrna-splicing(a13c3e7d-5983-4a62-8d61-fbc6850844b7).html

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