|
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 |
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 |
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 |
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 |
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 |
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 |
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
|
28251416 |
2017 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
|
27515243 |
2017 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
|
27515243 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Corpus callosum abnormalities: neuroradiological and clinical correlations.
|
26661037 |
2016 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.
|
26745957 |
2016 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
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 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
|
25778938 |
2015 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
|
25433810 |
2014 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GeneticVariation
|
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 |
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 |
CLINVAR |
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
|
24136197 |
2013 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
|
21667091 |
2012 |