(Q41826998)

12 October 2017

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

1 reference

12 October 2017

Eva Trevisson

1

1 reference

12 October 2017

Alberto Burlina

2

1 reference

12 October 2017

Mara Doimo

3

1 reference

12 October 2017

Vanessa Pertegato

4

1 reference

12 October 2017

Alberto Casarin

5

1 reference

12 October 2017

Luca Cesaro

6

1 reference

12 October 2017

Placido Navas

7

1 reference

12 October 2017

Giuseppe Basso

8

1 reference

12 October 2017

Geppo Sartori

9

1 reference

12 October 2017

Leonardo Salviati

10

1 reference

12 October 2017

language of work or name

English

0 references

publication date

24 August 2009

1 reference

Journal of Biological Chemistry

12 October 2017

1 reference

12 October 2017

284

1 reference

12 October 2017

42

1 reference

12 October 2017

28926-28934

1 reference

LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Yeast transformation by the LiAc/SS Carrier DNA/PEG method

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

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

6 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

6 June 2018

https://api.crossref.org/works/10.1074%2FJBC.M109.050195

Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Human argininosuccinate lyase: a structural basis for intragenic complementation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Cloning and sequence analysis of cDNA for human argininosuccinate lyase

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

A family of low and high copy replicative, integrative and single-strandedS. cerevisiae/E. coli shuttle vectors

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Mutation D104G in ANT1 gene: complementation study in Saccharomyces cerevisiae as a model system

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

Disruption of a salt bridge dramatically accelerates subunit exchange in duck delta2 crystallin

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781438

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

18 August 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene

1 reference

12 December 2020

Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M109.050195

1 reference

12 October 2017

1 reference

12 October 2017

PubMed publication ID

19703900

1 reference