Literature DB >> 22231378

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.

Mara Doimo, Eva Trevisson, Geppo Sartori, Alberto Burlina, Leonardo Salviati.   

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Year:  2012        PMID： 22231378     DOI： 10.1007/s10545-011-9402-9

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


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  2 in total

1.  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

2.  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
  2 in total
  3 in total

1.  Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

Authors:  Liyan Hu; Amit V Pandey; Cécile Balmer; Sandra Eggimann; Véronique Rüfenacht; Jean-Marc Nuoffer; Johannes Häberle
Journal:  J Inherit Metab Dis       Date:  2015-03-17       Impact factor: 4.982

2.  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

3.  Strain-specific nuclear genetic background differentially affects mitochondria-related phenotypes in Saccharomyces cerevisiae.

Authors:  Arianna Montanari; Silvia Francisci; Mario Fazzi D'Orsi; Michele Maria Bianchi
Journal:  Microbiologyopen       Date:  2014-04-02       Impact factor: 3.139
  3 in total

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