Výsledky vyhledávání - "beta-Ureidopropionase"

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain

Autor: Righetti, Sarah, Allcock, Richard J. N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B. P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P.

Publikováno v: Molecular genetics and metabolism, 137(1-2), 62-67. Academic Press Inc.

Background: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. Aim: We aimed to reassess the relationship b

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http://www.scopus.com/inward/record.url?scp=85135508068&partnerID=8YFLogxK

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β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity

Autor: Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Dirk Maurer, Ardeshir A. Monavari, Anders Gummesson, Annika Reims, Jorge A. Cayuela, Natalia Kuklina, Jean-François Benoist, Laurence Perrin, Birgit Assmann, Georg F. Hoffmann, Jörgen Bierau, Angela M. Kaindl, André B.P. van Kuilenburg

Publikováno v: Molecular genetics and metabolism, 136(3), 177-185. Academic Press Inc.
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press Inc.

beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and catalyses the conversion of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid to beta-alanine and beta-aminoisobutyric acid, ammonia and CO2. To date,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4548d2ad17ee7613703e5f517be70cb1
https://doi.org/10.1016/j.ymgme.2022.01.102

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A radiochemical assay for beta-ureidopropionase using radiolabeled N-carbamyl-beta-alanine obtained via hydrolysis of [2-(14)C]5, 6-dihydrouracil

Autor: A. B. P. Van Kuilenburg, A. H. van Gennip, H. van Lenthe

Publikováno v: Analytical biochemistry, 272(2), 250-253. Academic Press Inc.

A radiochemical assay was developed to measure the activity of beta-ureidopropionase in human liver homogenates which is based on the detection of the reaction product (14)CO(2) by liquid scintillation counting. Radiolabeled N-carbamyl-beta-alanine w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebecb242b7179a50bdccb5008d6ea0a4
https://doi.org/10.1006/abio.1999.4181

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Beta-ureidopropionase deficiency presenting with febrile status epilepticus

Autor: André B.P. van Kuilenburg, Felix Distelmaier, Ertan Mayatepek, Nico G.G.M. Abeling, Marinus Duran, Jörg Schaper, Birgit Assmann, Thorsten Rosenbaum

Publikováno v: Epilepsia, 47(1), 215-217. Wiley-Blackwell

Summary: β-Ureidopropionase is the third enzyme in the catabolic pathway of uracil and thymine. To date, only three other patients are reported with this inborn error of metabolism. We report the clinical presentation of a male patient who presented

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https://doi.org/10.1111/j.1528-1167.2006.00391.x

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Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia

Autor: A. B. P. Van Kuilenburg, E. G. Scholten, N. G. G. M. Abeling, A. H. van Gennip, H. Van Lenthe

Publikováno v: Journal of inherited metabolic disease, 20(3), 379-382. Springer Netherlands
Journal of inherited metabolic disease, 20, 379-382. Springer Netherlands

Propionic acidaemia is due to a primary deficiency of propionyl-CoA carboxylase (EC 6.4.1.3) activity. The clinical picture is characterized by repeated relapses and neurological sequelae are common. Among the neurological complications, focal and ge

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https://pure.amc.nl/en/publications/inhibition-of-betaureidopropionase-by-propionate-may-contribute-to-the-neurological-complications-in-patients-with-propionic-acidaemia(b8fe9f45-ff47-4b64-9ce3-6b6b3d1fffe6).html

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