|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified compound heterozygous mutations of the argininosuccinate lyase (ASL) gene in a Chinese Han ASAuria patient.
|
26843370 |
2016 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we are providing an update on the molecular basis of ASLD by collecting all published (n = 67) as well as novel mutations (n = 67) of the ASL gene.
|
24166829 |
2014 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
|
22081021 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of AL leads to the human urea cycle disorder argininosuccinic aciduria.
|
12559843 |
2003 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous p.Lys69Arg and p.Arg213∗ mutations that resulted in reduced ASL enzyme activity were found in a patient with ASLD.
|
31183366 |
2019 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900).
|
16435180 |
2005 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
This review describes the structure and function of ASL and its homologue delta crystallin, the genetic defects associated with argininosuccinic aciduria and current theories regarding complementation in this protein.
|
11092456 |
2000 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data emphasize ASL importance for the metabolic regulation of LC function with translational relevance for ASL deficiency (ASLD) patients as well as for LC-related pathologies.
|
31747589 |
2019 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
|
282632 |
1978 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study aimed at the completion of the structure and the sequence of the human ASL gene, the development of a genomic DNA-based system for mutation analysis and, finally, the characterisation of the molecular genetic background of ASL deficiency in 27 unrelated patients.
|
12384776 |
2002 |
|
Argininosuccinic Aciduria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that the clinical and biochemical course in variant forms of ASLD is associated with relevant residual levels of ASL activity as well as instability of mutant ASL proteins.
|
25778938 |
2015 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of ASL results in an accumulation of argininosuccinic acid in tissues, and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA).
|
21312326 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six individuals with ASAL deficiency had alleles that led to a complete absence of exon 13 from the ASL mRNA; each had a partial deletion of exon 13 in the genomic DNA.
|
16941645 |
2006 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results suggest that ASL transcripts can contribute to the highly variable phenotype in ASA patients if expressed at high levels.
|
24136197 |
2013 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two new pathogenic mutations of ASL gene, c.208-15 T>A and c.281G>T, were found in an ASA family, which enriches the mutational profile of the ASL gene and provides a basis for genetic diagnosis of ASA.
|
31156699 |
2019 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this article, we discuss the natural history of ASA and the recent mechanistic insights from animal studies that have shown the requirement of argininosuccinate lyase, the enzyme deficient in ASA, for systemic nitric oxide production.
|
22841516 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
|
174426 |
1976 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using data from a human clinical study, a mouse model with endothelial-specific deletion of argininosuccinate lyase (Asl), and in vitro studies in human aortic endothelial cells and induced pluripotent stem cell-derived endothelial cells from individuals with ASLD, we show that loss of ASL in endothelial cells leads to endothelial-dependent vascular dysfunction with reduced nitric oxide (NO) production, increased oxidative stress, and impaired angiogenesis.
|
30075114 |
2018 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we present a collaborative review, which highlights these recent discoveries and novel emerging concepts about ASL role in human physiology, ASA clinical phenotype and geographic prevalence, limits of current standard of care and newborn screening, pathophysiology of the disease, and emerging novel therapies.
|
30723942 |
2019 |
|
Argininosuccinic Aciduria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, we developed a gene therapy strategy for ASA aimed at alleviating the symptoms associated with urea cycle disruption by providing stable expression of ASL protein in the liver.
|
30253962 |
2018 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
|
25778938 |
2015 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here, we are providing an update on the molecular basis of ASLD by collecting all published (n = 67) as well as novel mutations (n = 67) of the ASL gene.
|
24166829 |
2014 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hereditary urea cycle diseases in Finland.
|
18616627 |
2008 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
|
17326097 |
2007 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
|
11747432 |
2001 |