Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations-Reference-Cited by-同舟云学术

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Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

Published:2009-10 Issue:42 Volume:284 Page:28926-28934
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Trevisson Eva,Burlina Alberto,Doimo Mara,Pertegato Vanessa,Casarin Alberto,Cesaro Luca,Navas Placido,Basso Giuseppe,Sartori Geppo,Salviati Leonardo

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference24 articles.

1. The Metabolic and Molecular Bases of Inherited Disease;Brusilov,2001

2. Human argininosuccinate lyase: A structural basis for intragenic complementation

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

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

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

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1. Redundant and Distinct Roles of Two 14-3-3 Proteins in Fusarium sacchari, Pathogen of Sugarcane Pokkah Boeng Disease;Journal of Fungi;2024-03-28

2. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening;Clinical Dysmorphology;2023-10-13

3. The functional impact of 1,570 individual amino acid substitutions in human OTC;The American Journal of Human Genetics;2023-05

4. The functional impact of 1,570 SNP-accessible missense variants in humanOTC;2022-10-26

5. Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia;JIMD Reports;2021-09-26

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