ArticleAmerican journal of human genetics2003
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Acylcarnitine profile analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2008Guideline
- The inhibitors of 17β-HSD10: are they any good?RSC chemical biology · 2026Review
- Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of theAME case reports · 2026Article
- Roles of Type 10 17β-Hydroxysteroid Dehydrogenase in Health and Disease.Journal of personalized medicine · 2025Review
- Article
- Discovery, structure, mechanisms, and evolution of protein-only RNase P enzymes.The Journal of biological chemistry · 2024Review
- Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.International journal of molecular sciences · 2023Review
- 3-Hydroxyacyl-CoA and Alcohol Dehydrogenase Activities of Mitochondrial Type 10 17β-Hydroxysteroid Dehydrogenase in Neurodegeneration Study.Journal of Alzheimer's disease : JAD · 2022Article
- Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.American journal of human genetics · 2021Article
- HSD10 disease in a female: A case report and review of literature.JIMD reports · 2021Article
- Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses.Cell death & disease · 2020Article
- 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.Orphanet journal of rare diseases · 2020Article
- HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.Molecular genetics & genomic medicine · 2019Article
- Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.Molecular genetics and metabolism reports · 2018Article
- Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase.Journal of inherited metabolic disease · 2017Article
- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.JIMD reports · 2017Article
- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.JIMD reports · 2017Article
- Physical Exercise and Brain Mitochondrial Fitness: The Possible Role Against Alzheimer's Disease.Brain pathology (Zurich, Switzerland) · 2016Review
- Chemoproteomic Strategy to Quantitatively Monitor Transnitrosation Uncovers Functionally Relevant S-Nitrosation Sites on Cathepsin D and HADH2.Cell chemical biology · 2016Article
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Abstract
2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a novel inborn error of isoleucine degradation. In this article, we report the elucidation of the molecular basis of MHBD deficiency. To this end, we purified the enzyme from bovine liver. MALDI-TOF mass spectrometry analysis revealed that the purified protein was identical to bovine 3-hydroxyacyl-CoA dehydrogenase type II. The human homolog of this bovine enzyme is a short-chain 3-hydroxyacyl-CoA dehydrogenase, also known as the "endoplasmic reticulum-associated amyloid-beta binding protein" (ERAB). This led to the identification of the X-chromosomal gene involved, which previously had been denoted "HADH2." Sequence analysis of the HADH2 gene from patients with MHBD deficiency revealed the presence of two missense mutations (R130C and L122V). Heterologous expression of the mutant cDNAs in Escherichia coli showed that both mutations almost completely abolish enzyme activity. This confirms that MHBD deficiency is caused by mutations in the HADH2 gene.
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