Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations (Q27334840)

26 June 2017

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations (English)

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Carbamoyl-phosphate synthase 1

26 June 2017

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response to toxic substance

GOA release 2020-03-11

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GOA release 2020-03-11

Marshall Summar

15

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Vicente Rubio

object named as

Vicente Rubio

13

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Olivier Lichtarge

12

object named as

Olivier Lichtarge

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26 June 2017

Johannes Häberle

1

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26 June 2017

Oleg A Shchelochkov

2

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26 June 2017

Jing Wang

3

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26 June 2017

Panagiotis Katsonis

4

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26 June 2017

Lynn Hall

5

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26 June 2017

Sara Reiss

6

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26 June 2017

Angela Eeds

7

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26 June 2017

Alecia Willis

8

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26 June 2017

Meeta Yadav

9

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26 June 2017

Samantha Summar

10

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26 June 2017

Lee-Jun Wong

14

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26 June 2017

Urea Cycle Disorders Consortium

11

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26 June 2017

language of work or name

English

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publication date

5 May 2011

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26 June 2017

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26 June 2017

32

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6

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26 June 2017

579-589

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Role for the regulator of G-protein signaling homology domain of G protein-coupled receptor kinases 5 and 6 in beta 2-adrenergic receptor and rhodopsin phosphorylation

26 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

MUSCLE: multiple sequence alignment with high accuracy and high throughput

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Carbamoyl phosphate synthetase: closure of the B-domain as a result of nucleotide binding

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

The relation between the divergence of sequence and structure in proteins

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

21 March 2017

https://api.crossref.org/works/10.1002%2FHUMU.21406

7 January 2021

inferred from DOI database lookup

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Role of conserved residues within the carboxy phosphate domain of carbamoyl phosphate synthetase

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

An evolutionary trace method defines binding surfaces common to protein families

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

ET viewer: an application for predicting and visualizing functional sites in protein structures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Evolutionary trace report_maker: a new type of service for comparative analysis of proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

A family of evolution-entropy hybrid methods for ranking protein residues by importance.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Combining inference from evolution and geometric probability in protein structure evaluation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

SNPs, protein structure, and disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

PDBsum: a Web-based database of summaries and analyses of all PDB structures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

The carbamoyl-phosphate synthase family and carbamate kinase: structure-function studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Structure-function studies in carbamoyl phosphate synthetases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Molecular studies on an ancient gene encoding for carbamoyl-phosphate synthetase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Human carbamoylphosphate synthetase I.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Expression of nuclear genes encoding the urea cycle enzymes, carbamoyl-phosphate synthetase I and ornithine carbamoyl transferase, in rat liver and intestinal mucosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Mechanism and regulation of the glutamine-dependent carbamyl phosphate synthetase of Escherichia coli

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Urea biosynthesis I. The urea cycle and relationships to the citric acid cycle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Characterization and derivation of the gene coding for mitochondrial carbamyl phosphate synthetase I of rat.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Physical location of the site for N-acetyl-L-glutamate, the allosteric activator of carbamoyl phosphate synthetase, in the 20-kilodalton COOH-terminal domain

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Comparison of the functional differences for the homologous residues within the carboxy phosphate and carbamate domains of carbamoyl phosphate synthetase.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

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

2 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Population screening in a Druze community: the challenge and the reward.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Role of Cys-1327 and Cys-1337 in redox sensitivity and allosteric monitoring in human carbamoyl phosphate synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Untersuchungen uber die Harnstoffbildung im Tierkörper

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Identification of functional surfaces of the zinc binding domains of intracellular receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

A functional analysis of the allosteric nucleotide monophosphate binding site of carbamoyl phosphate synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Gain of Glutaminase Function in Mutants of the Ammonia-specific Frog Carbamoyl Phosphate Synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21406

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

21 January 2018

1 reference

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An Accurate, Sensitive, and Scalable Method to Identify Functional Sites in Protein Structures

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21406

Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.

21 January 2018

1 reference

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A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

The influence of effectors and subunit interactions on Escherichia coli carbamoyl-phosphate synthetase studied by differential scanning calorimetry.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4861085

Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers

27 November 2018

1 reference

12 December 2020

Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan

1 reference

12 December 2020

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

1 reference

12 December 2020

Source and fate of circulating citrulline

1 reference

12 December 2020

Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions

1 reference

12 December 2020

Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency

1 reference

12 December 2020

A study of urea-synthesizing enzymes in prenatal and postnatal human liver

1 reference

12 December 2020

Oxidative inactivation of carbamoyl phosphate synthetase (ammonia). Mechanism and sites of oxidation, degradation of the oxidized enzyme, and inactivation by glycerol, EDTA, and thiol protecting agents

1 reference

12 December 2020

Affinity cleavage of carbamoyl-phosphate synthetase I localizes regions of the enzyme interacting with the molecule of ATP that phosphorylates carbamate

1 reference

12 December 2020

Domain structure of rat liver carbamoyl phosphate synthetase I

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21406

1 reference

26 June 2017

0 references

1 reference