Literature DB >> 10896281

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.

M Linnebank1, A Homberger, B Rapp, C Winter, T Marquardt, E Harms, H G Koch.   

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Year:  2000        PMID： 10896281     DOI： 10.1023/a:1005690005439

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  Human argininosuccinate lyase: a structural basis for intragenic complementation.

Authors:  M A Turner; A Simpson; R R McInnes; P L Howell
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-19       Impact factor: 11.205

2.  Gene sharing by delta-crystallin and argininosuccinate lyase.

Authors:  J Piatigorsky; W E O'Brien; B L Norman; K Kalumuck; G J Wistow; T Borras; J M Nickerson; E F Wawrousek
Journal:  Proc Natl Acad Sci U S A       Date:  1988-05       Impact factor: 11.205

3.  Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

Authors:  D C Walker; D A McCloskey; L R Simard; R R McInnes
Journal:  Proc Natl Acad Sci U S A       Date:  1990-12       Impact factor: 11.205

4.  Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.

Authors:  D C Walker; J Christodoulou; H J Craig; L R Simard; L Ploder; P L Howell; R R McInnes
Journal:  J Biol Chem       Date:  1997-03-07       Impact factor: 5.157

5.  Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

Authors:  W E O'Brien; R McInnes; K Kalumuck; M Adcock
Journal:  Proc Natl Acad Sci U S A       Date:  1986-10       Impact factor: 11.205

6.  Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

Authors:  R D Abramson; P Barbosa; K Kalumuck; W E O'Brien
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

7.  Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

Authors:  P Barbosa; M Cialkowski; W E O'Brien
Journal:  J Biol Chem       Date:  1991-03-15       Impact factor: 5.157

Review 8.  Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

Authors:  P L Howell; M A Turner; J Christodoulou; D C Walker; H J Craig; L R Simard; L Ploder; R R McInnes
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

9.  cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

Authors:  S Todd; J R McGill; J L McCombs; C M Moore; I Weider; S L Naylor
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736
  9 in total
  10 in total

1.  Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

Authors:  M Al-Sayed; S Alahmed; O Alsmadi; H Khalil; M S Rashed; F Imtiaz; B F Meyer
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Authors:  W J Kleijer; V H Garritsen; M Linnebank; P Mooyer; J G M Huijmans; A Mustonen; K O J Simola; M Arslan-Kirchner; R Battini; P Briones; E Cardo; H Mandel; E Tschiedel; R J A Wanders; H G Koch
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

3.  Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

Authors:  Katharina Engel; Jean-Marc Vuissoz; Sandra Eggimann; Murielle Groux; Christoph Berning; Liyan Hu; Vera Klaus; Dorothea Moeslinger; Saadet Mercimek-Mahmutoglu; Sylvia Stöckler; Bendicht Wermuth; Johannes Häberle; Jean-Marc Nuoffer
Journal:  J Inherit Metab Dis       Date:  2011-06-11       Impact factor: 4.982

4.  Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.

Authors:  S Stadler; K Gempel; I Bieger; B F Pontz; K D Gerbitz; M F Bauer; S Hofmann
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

5.  Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

Authors:  Faiqa Imtiaz; Moeen Al-Sayed; Danyah Trabzuni; Bashair R Al-Mubarak; Osama Alsmadi; Mohamed S Rashed; Brian F Meyer
Journal:  BMC Res Notes       Date:  2010-03-18

6.  Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

Authors:  Eva Trevisson; Alberto Burlina; Mara Doimo; Vanessa Pertegato; Alberto Casarin; Luca Cesaro; Placido Navas; Giuseppe Basso; Geppo Sartori; Leonardo Salviati
Journal:  J Biol Chem       Date:  2009-08-24       Impact factor: 5.157

7.  Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

Authors:  Liyan Hu; Amit V Pandey; Sandra Eggimann; Véronique Rüfenacht; Dorothea Möslinger; Jean-Marc Nuoffer; Johannes Häberle
Journal:  J Biol Chem       Date:  2013-10-17       Impact factor: 5.157

8.  Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.

Authors:  Mei Zhao; Lingling Hou; Huajing Teng; Jinchen Li; Jiesi Wang; Kunlin Zhang; Lin Yang
Journal:  Biomed Res Int       Date:  2019-04-30       Impact factor: 3.411

9.  Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.

Authors:  Ernie Zuraida Ali; Yusnita Yakob; Lock Hock Ngu
Journal:  Mol Genet Metab Rep       Date:  2019-10-24

10.  NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

Authors:  Wei Wen; Dan Yin; Fangfang Huang; Meng Guo; Tian Tian; Hui Zhu; Yun Yang
Journal:  BMC Med Genet       Date:  2016-02-03       Impact factor: 2.103
  10 in total

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