Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis (Q39688397)

14 September 2017

title

Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis (English)

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carbamoyl phosphate synthetase I deficiency disease

14 September 2017

main subject

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6

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14 September 2017

Belén Barcelona

3

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Satu Pekkala

object named as

Satu Pekkala

1

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author name string

Ana I Martínez

2

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14 September 2017

Igor Yefimenko

4

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14 September 2017

Ulrich Finckh

5

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14 September 2017

Javier Cervera

7

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14 September 2017

language of work or name

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1 July 2010

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14 September 2017

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14 September 2017

volume

31

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14 September 2017

issue

7

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14 September 2017

page(s)

801-808

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Structure-function studies in carbamoyl phosphate synthetases

14 September 2017

cites work

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Evolutionary relationships of the carbamoylphosphate synthetase genes

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Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism

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Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate

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Regulatory Changes in the Control of Carbamoyl Phosphate Synthetase Induced by Truncation and Mutagenesis of the Allosteric Binding Domain

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Serine 948 and threonine 1042 are crucial residues for allosteric regulation of Escherichia coli carbamoylphosphate synthetase and illustrate coupling effects of activation and inhibition pathways

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Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old.

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The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

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Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1

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Site-directed mutagenesis of the regulatory domain of escherichia coli carbamoyl phosphate synthetase identifies crucial residues for allosteric regulation and for transduction of the regulatory signals 1 1Edited by A. R. Fersht

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Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions

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Influence of anions on the activation of carbamoyl phosphate synthetase (ammonia) by acetylglutamate: implications for the activation of the enzyme in the mitochondria

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Structure and function of carbamoylphosphate synthase. I. Transitions between two catalytically inactive forms and the active form

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Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset

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Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia

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Perforation of the tunnel wall in carbamoyl phosphate synthetase derails the passage of ammonia between sequential active sites

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Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Critical roles for arginine 1061/1060 and tyrosine 1057 in Saccharomyces cerevisiae arginine-specific carbamoyl-phosphate synthetase

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The molecular structure and function of carbamyl phosphate synthetase I

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Proteolysis as a probe of ligand-associated conformational changes in rat carbamyl phosphate synthetase I

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Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis

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7 January 2021

Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

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7 January 2021

Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase

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7 January 2021

Mitochondrial Carbamoyl Phosphate Synthetase Activity in the Absence of N-Acetyl-l-glutamate. Mechanism of Activation by this Cofactor

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7 January 2021

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Carbamoyl phosphate synthetase I of human liver. Purification, some properties and immunological cross-reactivity with the rat liver enzyme

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7 January 2021

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7 January 2021

Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35

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7 January 2021

Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function

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7 January 2021

Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene

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7 January 2021

Structure of carbamoyl phosphate synthetase: a journey of 96 A from substrate to product

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7 January 2021

Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21272

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14 September 2017

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