Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Argininosuccinase

Das ASL-Gen kodiert die Argininosuccinase, ein Enzym, welches eine wichtige Rolle im Harnstoffzyklus spielt. Mutationen führen zur Argininosukzinurie einer autosomal rezessiven Erkrankung.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Argininbernsteinsäure-Krankheit
ASL

Referenzen:

1.

Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.

[^]
2.

Linnebank M et al. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

[^]
3.

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.

[^]
4.

Trevisson E et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

[^]
5.

et al. () //

[^]
6.

Abramson RD et al. (1991) Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

[^]
7.

Erez A et al. (2011) Requirement of argininosuccinate lyase for systemic nitric oxide production.

[^]
8.

Nagamani SC et al. (2012) Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.

[^]
9.

Walker DC et al. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

[^]
10.

Todd S et al. (1989) cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

[^]
11.

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.

[^]
12.

Piatigorsky J et al. (1988) Gene sharing by delta-crystallin and argininosuccinate lyase.

[^]
13.

Matuo S et al. (1988) Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.

[^]
14.

O'Brien WE et al. (1986) Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

[^]

 

 
Ihre Nachricht: