Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency-Reference-Cited by-同舟云学术

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Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency

Published:2008-09 Issue:1-2 Volume:95 Page:46-51
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Purevsuren Jamiyan,Fukao Toshiyuki,Hasegawa Yuki,Fukuda Seiji,Kobayashi Hironori,Yamaguchi Seiji

Publisher

Elsevier BV

Subject

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

Reference31 articles.

1. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein;Uchida;J. Biol. Chem.,1992

2. Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein;Kamijo;Biochem. Biophys. Res. Commun.,1994

3. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase;Wanders;Lancet,1989

4. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation;Wanders;Biochem. Biophys. Res. Commun.,1992

5. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein;IJlst;Biochim. Biophys. Acta,1994

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1. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24

2. MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations;Molecular Genetics and Metabolism;2021-05

3. Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency;Human Genome Variation;2020-04-02

4. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency;Orphanet Journal of Rare Diseases;2018-07-20

5. Cryo-EM structure of human mitochondrial trifunctional protein;Proceedings of the National Academy of Sciences;2018-06-18

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