Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression-Reference-Cited by-同舟云学术

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Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression

Published:2014-12 Issue:4 Volume:113 Page:267-273
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Hu Liyan,Diez-Fernandez Carmen,Rüfenacht Véronique,Hismi Burcu Öztürk,Ünal Özlem,Soyucen Erdogan,Çoker Mahmut,Bayraktar Bilge Tanyeri,Gunduz Mehmet,Kiykim Ertugrul,Olgac Asburce,Pérez-Tur Jordi,Rubio Vicente,Häberle Johannes

Funder

Swiss National Science Foundation

Ciberned-ISCIII

Spanish Government

Prometeo (Valencian Government

Alicia Koplowitz Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference52 articles.

1. The incidence of urea cycle disorders;Summar;Mol. Genet. Metab.,2013

2. Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations;Häberle;Hum. Mutat.,2011

3. A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age;Ono;Brain Dev.,2009

4. Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?;Klaus;Clin. Genet.,2009

5. Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35;Summar;Cytogenet. Cell Genet.,1995

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1. Transcriptomic Analysis of Diethylstilbestrol in Daphnia Magna: Energy Metabolism and Growth Inhibition;Toxics;2023-02-20

2. Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned;Molecular Genetics and Metabolism Reports;2022-12

3. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency;Clinica Chimica Acta;2022-02

4. Ammonia induces changes in carbamoyl phosphate synthetase I and its regulation of glutamine synthesis and urea cycle in yellow catfish Pelteobagrus fulvidraco;Fish & Shellfish Immunology;2022-01

5. Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders;Biochimie;2021-04

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