Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine (Q28255463)

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English	Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine	scientific article

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scholarly article

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Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine (English)

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Clara Marco-Marín

object named as

Clara Marco-Marín

8

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Giovanna Stefania Colafati

object named as

Giovanna Stefania Colafati

13

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object named as

Cecilia Giunta

4

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Rosalba Carrozzo

object named as

Rosalba Carrozzo

6

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Matthias R Baumgartner

object named as

Matthias R Baumgartner

15

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object named as

Vicente Rubio

3

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Carlo Dionisi-Vici

object named as

Carlo Dionisi-Vici

16

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author name string

Diego Martinelli

1

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Johannes Häberle

2

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Ingrid Hausser

5

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Nadine Gougeard

7

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Bianca M Goffredo

9

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Maria Chiara Meschini

10

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Elsa Bevivino

11

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Sara Boenzi

12

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Francesco Brancati

14

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language of work or name

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publication date

September 2012

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Journal of Inherited Metabolic Disease

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35

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761-76

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5

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9411-8

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Participation of ornithine aminotransferase in the synthesis and catabolism of ornithine in mice. Studies using gabaculine and arginine deprivation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Synthesis and transport of creatine in the CNS: importance for cerebral functions

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Creatine deficiency syndromes and the importance of creatine synthesis in the brain

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

The metabolic burden of creatine synthesis

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Protein structure prediction servers at University College London

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

The Jpred 3 secondary structure prediction server

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

The CCP4 suite: programs for protein crystallography

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Coot: model-building tools for molecular graphics

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Arginine supplementation in four patients with X-linked creatine transporter defect.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Proline modulates the intracellular redox environment and protects mammalian cells against oxidative stress

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

PROCHECK: a program to check the stereochemical quality of protein structures

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

A novel two-domain architecture within the amino acid kinase enzyme family revealed by the crystal structure of Escherichia coli glutamate 5-kinase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Glutamate-5-kinase from Escherichia coli: gene cloning, overexpression, purification and crystallization of the recombinant enzyme and preliminary X-ray studies

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Dissection of Escherichia coli glutamate 5-kinase: functional impact of the deletion of the PUA domain

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Mapping active site residues in glutamate-5-kinase. The substrate glutamate and the feed-back inhibitor proline bind at overlapping sites.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Structure of acetylglutamate kinase, a key enzyme for arginine biosynthesis and a prototype for the amino acid kinase enzyme family, during catalysis

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Mutations in PYCR1 cause cutis laxa with progeroid features

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Biochemistry and functional significance of collagen cross-linking

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Comparative protein modelling by satisfaction of spatial restraints

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Amino acid cerebrospinal fluid/plasma ratios in children: influence of age, gender, and antiepileptic medication

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

GOR V server for protein secondary structure prediction

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Structural biology of proline catabolism

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Cellular and physiological effects of arginine

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Structural requirements for the utilization of ascorbate analogues in the prolyl 4-hydroxylase reaction

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Chemical screening methods to identify ligands that promote protein stability, protein crystallization, and structure determination

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

New insights into elastic fiber assembly

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Proline and hydroxyproline metabolism: implications for animal and human nutrition

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Removal of feedback inhibition of delta 1-pyrroline-5-carboxylate synthetase, a bifunctional enzyme catalyzing the first two steps of proline biosynthesis in plants.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9411-8

21 January 2018

Correct for hydroxyproline in elastin when measuring collagen in tissues with a high elastin content

1 reference

https://pubmed.ncbi.nlm.nih.gov/22170564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Eukaryotic aldehyde dehydrogenase (ALDH) genes: human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/22170564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22170564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Source and fate of circulating citrulline

1 reference

https://pubmed.ncbi.nlm.nih.gov/22170564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22170564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SOPMA: significant improvements in protein secondary structure prediction by consensus prediction from multiple alignments.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22170564

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S10545-011-9411-8

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