Argininosuccinate lyase
ASL encodes an enzyme of the urea cycle. Mutations cause Argininosuccinic aciduria, an autosomal recessive disorder.
Genetests:
Related Diseases:
References:
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Linnebank M et al. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
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O'Brien WE et al. (1986) Cloning and sequence analysis of cDNA for human argininosuccinate lyase.
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Matuo S et al. (1988) Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.
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Piatigorsky J et al. (1988) Gene sharing by delta-crystallin and argininosuccinate lyase.
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Naylor SL et al. (1978) Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
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Todd S et al. (1989) cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.
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Erez A et al. (2011) Requirement of argininosuccinate lyase for systemic nitric oxide production.
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Abramson RD et al. (1991) Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.
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None () ////
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Walker DC et al. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
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Nagamani SC et al. (2012) Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
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Trevisson E et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
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Kleijer WJ et al. (2002) 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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Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.
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Orphanet article
Orphanet ID 121455
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NCBI article
NCBI 435
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OMIM.ORG article
Omim 608310
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18. |
Wikipedia article
Wikipedia EN (Argininosuccinate_lyase)
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Update: Aug. 14, 2020