Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

BMC Research Notes

Volumn 3, Issue , 2010, Pages

  Imtiaz, Faiqa ^a   Al Sayed, Moeen ^a   Trabzuni, Danyah ^a   Al Mubarak, Bashair R ^a   Alsmadi, Osama ^a   Rashed, Mohamed S ^a   Meyer, Brian F ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77951185354     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-3-79     Document Type: Article

References (23)

1. Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry. MS Rashed Z Rahbeeni PT Ozand, Southeast Asian J Trop Med Public Health 1999 30 Suppl 2 170 173 11400762
2. Genetic approach to prenatal diagnosis in urea cycle defects. J Haberle HG Koch, Prenat Diagn 2004 24 5 378 383 10.1002/pd.884 15164414 (Pubitemid 38724865)
3. Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles. DC Walker J Christodoulou HJ Craig LR Simard L Ploder PL Howell RR McInnes, J Biol Chem 1997 272 10 6777 6783 10.1074/jbc.272.10.6777 9045711 (Pubitemid 27118166)
4. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. P Barbosa M Cialkowski WE O'Brien, J Biol Chem 1991 266 8 5286 5290 1705937 (Pubitemid 21909488)
5. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry. S Stadler K Gempel I Bieger BF Pontz KD Gerbitz MF Bauer S Hofmann, J Inherit Metab Dis 2001 24 3 370 378 10.1023/A:1010560704092 11486903
6. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. WJ Kleijer VH Garritsen M Linnebank P Mooyer JG Huijmans A Mustonen KO Simola M Arslan-Kirchner R Battini P Briones, et al. J Inherit Metab Dis 2002 25 5 399 410 10.1023/A:1020108002877 12408190
7. Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. M Linnebank A Homberger B Rapp C Winter T Marquardt E Harms HG Koch, J Inherit Metab Dis 2000 23 4 308 312 10.1023/A:1005690005439 10896281
8. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. M Linnebank E Tschiedel J Haberle A Linnebank H Willenbring WJ Kleijer HG Koch, Hum Genet 2002 111 4-5 350 359 10.1007/s00439-002-0793-4 12384776
9. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. LM Sampaleanu F Vallee GD Thompson PL Howell, Biochemistry 2001 40 51 15570 15580 10.1021/bi011525m 11747432
10. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. DC Walker DA McCloskey LR Simard RR McInnes, Proc Natl Acad Sci USA 1990 87 24 9625 9629 10.1073/pnas.87.24.9625 2263616
11. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. E Trevisson L Salviati MC Baldoin I Toldo A Casarin S Sacconi L Cesaro G Basso AB Burlina, Hum Mutat 2007 28 7 694 702 10.1002/humu.20498 17326097
12. Application of electrospray tandem mass spectrometry to neonatal screening. MS Rashed Z Rahbeeni PT Ozand, Semin Perinatol 1999 23 2 183 193 10.1016/S0146-0005(99)80050-0 10331469
13. Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. M Al-Sayed S Alahmed O Alsmadi H Khalil MS Rashed F Imtiaz BF Meyer, J Inherit Metab Dis 2005 28 6 877 883 10.1007/s10545-005-0081-2 16435180
14. Comprehensive human genome amplification using multiple displacement amplification. FB Dean S Hosono L Fang X Wu AF Faruqi P Bray-Ward Z Sun Q Zong Y Du J Du, et al. Proc Natl Acad Sci USA 2002 99 8 5261 5266 10.1073/pnas. 082089499 11959976 (Pubitemid 34411536)
15. Identification of a common novel mutation in Saudi patients with Arginosuccinic Aciduria. MAS Al-Sayed O Alsmadi H Khalil MS Rashed F Imtiaz BF Meyer, J Inherit Metab Dis 2005 28 6 877 83 10.1007/s10545-005-0081-2 16435180 (Pubitemid 43168924)
16. Two biochemically distinct classes of fumarase in Escherichia coli. SA Woods SD Schwartzbach JR Guest, Biochim Biophys Acta 1988 954 1 14 26 3282546
17. Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase. RL Stone H Zalkin JE Dixon, J Biol Chem 1993 268 26 19710 19716 8366112 (Pubitemid 23270762)
18. Changes of activity and mRNA expression of urea cycle enzymes in the liver of developing Holstein calves. M Takagi T Yonezawa S Haga H Shingu Y Kobayashi T Takahashi Y Ohtani Y Obara K Katoh, J Anim Sci 2008 86 7 1526 1532 10.2527/jas.2007-0799 18344300 (Pubitemid 352038968)
19. Detection of argininosuccinic aciduria by gas chromatography. T Sprinkle M Greer CM Williams, Clin Chim Acta 1969 23 1 27 31 10.1016/0009-8981(69)90006-0 5762134
20. [Molecular genetics of urea cycle diseases]. A Ohtake M Mori, Seikagaku 1990 62 9 1170 1177 2258657
21. Gene sharing by delta-crystallin and argininosuccinate lyase. J Piatigorsky WE O'Brien BL Norman K Kalumuck GJ Wistow T Borras JM Nickerson EF Wawrousek, Proc Natl Acad Sci USA 1988 85 10 3479 3483 10.1073/pnas.85.10.3479 3368457
22. The structure of avian eye lens delta-crystallin reveals a new fold for a superfamily of oligomeric enzymes. A Simpson O Bateman H Driessen P Lindley D Moss S Mylvaganam E Narebor C Slingsby, Nat Struct Biol 1994 1 10 724 734 10.1038/nsb1094-724 7634077 (Pubitemid 2137401)
23. Human argininosuccinate lyase: a structural basis for intragenic complementation. MA Turner A Simpson RR McInnes PL Howell, Proc Natl Acad Sci USA 1997 94 17 9063 9068 10.1073/pnas.94.17.9063 9256435