N‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects-Reference-Cited by-同舟云学术

N‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects

Published:2019-05-02 Issue:1 Volume:48 Page:36-44
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Yap Sufin¹,Gougeard Nadine²³,Hart Anthony R.⁴,Barcelona Belén²³,Rubio Vicente²³

Affiliation:

1. Department of Inherited Metabolic DisordersSheffield Children's Hospital Sheffield UK

2. Structural Enzymopathology UnitInstituto de Biomedicina de Valencia of the CSIC (IBV‐CSIC) Valencia Spain

3. Group 739, Centro de Investigación Biomédica en Red para Enfermedades Raras (CIBERER‐ISCIII) Madrid Spain

4. Department of NeurologySheffield Children's Hospital Sheffield UK

Funder

Secretaría de Estado de Investigación, Desarrollo e Innovación

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12034

Reference29 articles.

1. Disorders of the Urea Cycle and Related Enzymes

3. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

4. Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

5. Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis

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1. Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency;BMC Pediatrics;2024-08-22

2. A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency;Journal of Pediatric Endocrinology and Metabolism;2024-08-19

3. Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency;Journal of Inherited Metabolic Disease;2024-05-13

4. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency;Journal of Pediatric Endocrinology and Metabolism;2023-07-10

5. The significance of N-carbamoylglutamate in ruminant production;Journal of Animal Science and Biotechnology;2023-04-13