Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency-Reference-Cited by-同舟云学术

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Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

Published:2009-12 Issue:4 Volume:98 Page:372-377
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,Kobayashi Hironori,Li Hong,Mushimoto Yuichi,Fukuda Seiji,Yamaguchi Seiji

Publisher

Elsevier BV

Subject

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

Reference41 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. The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23;Yang;Genomics,1996

4. Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex;Kamijo;J. Biol. Chem.,1993

5. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations;Spiekerkoetter;Hum. Mutat.,2003

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1. Compartmental Differences in the Retinal Ganglion Cell Mitochondrial Proteome;2024-05-10

2. Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders;The FASEB Journal;2024-02-19

3. Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders;2023-08-31

4. Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient;Frontiers in Neurology;2023-06-13

5. Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy;Journal of Inherited Metabolic Disease;2022-05-05

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