Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system-Reference-Cited by-同舟云学术

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Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system

Published:2007-06 Issue:2 Volume:91 Page:138-147
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Goetzman Eric S.,Wang Yudong,He Miao,Mohsen Al-Walid,Ninness Brittani K.,Vockley Jerry

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference39 articles.

1. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship;Gregersen;Hum. Mutat,2001

2. Branched chain organic acidurias;Sweetman,2001

3. Disorders of mitochondrial fatty acyl-CoA β-oxidation;Wanders;J. Inher. Metab. Dis.,1999

4. Diagnosis and management of defects of mitochondrial beta-oxidation;Vockley;Curr. Opin. Clin. Nutr. Metab. Care,2002

5. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency;Andresen;Am. J. Hum. Genet.,1999

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2. Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency;Nature Communications;2022-06-27

3. Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening;Journal of Inherited Metabolic Disease;2022-03-11

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