Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene (Q86602309)

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28 February 2020

title

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene (English)

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2

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Jean-Marc Nuoffer

4

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author name string

Cécile Balmer

1

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28 February 2020

Véronique Rüfenacht

3

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Ping Fang

5

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28 February 2020

Lee-Jun Wong

6

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Johannes Häberle

7

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publication date

25 November 2013

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28 February 2020

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volume

35

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issue

1

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page(s)

27-35

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A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

28 February 2020

cites work

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7 January 2021

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria

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Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules

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Investigation of citrullinemia type I variants by in vitro expression studies

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Activated microglia cells express argininosuccinate synthetase and argininosuccinate lyase in the rat brain after transient ischemia

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7 January 2021

A Method to Identify Protein Sequences That Fold into a Known Three-Dimensional Structure

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7 January 2021

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites

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7 January 2021

The CpG dinucleotide and human genetic disease

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7 January 2021

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

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7 January 2021

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond

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7 January 2021

Requirement of argininosuccinate lyase for systemic nitric oxide production.

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7 January 2021

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

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7 January 2021

Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation

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7 January 2021

Genetic approach to prenatal diagnosis in urea cycle defects

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7 January 2021

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

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7 January 2021

Errors in protein structures

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7 January 2021

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

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7 January 2021

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

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7 January 2021

Making optimal use of empirical energy functions: force-field parameterization in crystal space

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7 January 2021

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

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7 January 2021

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene

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7 January 2021

Quantum mechanics simulation of protein dynamics on long timescale.

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7 January 2021

Assessment of protein models with three-dimensional profiles

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7 January 2021

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

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7 January 2021

Argininosuccinate lyase: purification and characterization from human liver

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7 January 2021

Cloning and sequence analysis of cDNA for human argininosuccinate lyase

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7 January 2021

Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase

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7 January 2021

Enzymes of arginine metabolism in brain.

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7 January 2021

Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R

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7 January 2021

Recognition of functional sites in protein structures.

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7 January 2021

SiteEngines: recognition and comparison of binding sites and protein-protein interfaces

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7 January 2021

A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria

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7 January 2021

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations

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7 January 2021

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

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7 January 2021

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

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7 January 2021

Human argininosuccinate lyase: a structural basis for intragenic complementation

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7 January 2021

Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate

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7 January 2021

WHAT IF: a molecular modeling and drug design program

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7 January 2021

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

1 reference

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7 January 2021

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

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7 January 2021

Urine screening for aminoacidopathies: Is it beneficial?

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7 January 2021

Synthesis of citrulline from glutamine in pig enterocytes

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7 January 2021

Mechanisms for intragenic complementation at the human argininosuccinate lyase locus

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22469

1 reference

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28 February 2020

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