|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
GeneticVariation
|
disease |
CLINVAR |
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 |
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 |
CLINVAR |
Human argininosuccinate lyase: a structural basis for intragenic complementation.
|
9256435 |
1997 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
CTD_human |
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia.
|
3106853 |
1987 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
|
1705937 |
1991 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disruption of a salt bridge dramatically accelerates subunit exchange in duck delta2 crystallin.
|
15273245 |
2004 |
|
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
|
9686346 |
1998 |
|
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 |
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
|
20236848 |
2010 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
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 |
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.
|
16435180 |
2005 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
|
21667091 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
|
23430928 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
|
27515243 |
2017 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Disruption of a salt bridge dramatically accelerates subunit exchange in duck delta2 crystallin.
|
15273245 |
2004 |