Associated Papers
A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature.
Jiang T et al.
Orphanet Journal of Rare Diseases, 2025
Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.
He XY et al.
International Journal of Molecular Sciences, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Wohlfarter Y et al.
Cellular and Molecular Life Sciences : Cmls, 2022
HSD10 disease in a female: A case report and review of literature.
Upadia J et al.
Jimd Reports, 2021
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Waters PJ et al.
Molecular Genetics & Genomic Medicine, 2019
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Stepien KM et al.
Molecular Genetics and Metabolism Reports, 2018
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
Su L et al.
Metabolic Brain Disease, 2017
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Oerum S et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.
Richardson A et al.
Jimd Reports, 2017
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
Akagawa S et al.
Jimd Reports, 2017
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
Falk MJ et al.
Rna Biology, 2016
Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.
Bertolin G et al.
Cell Death and Differentiation, 2015
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E et al.
Nucleic Acids Research, 2015
Mitochondrial transcript maturation and its disorders.
Van Haute L et al.
Journal of Inherited Metabolic Disease, 2015
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E et al.
Nucleic Acids Research, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
Chatfield KC et al.
Mitochondrion, 2015
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T et al.
Journal of Human Genetics, 2014
Genotype-based databases for variants causing rare diseases.
Lanthaler B et al.
Gene, 2014
Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.
Yang SY et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2014
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Deutschmann AJ et al.
Human Molecular Genetics, 2014
[Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency].
Shu JB et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
Yang SY et al.
Gene, 2013
HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
Zschocke J
Journal of Inherited Metabolic Disease, 2012
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Seaver LH et al.
Plos One, 2011
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Rauschenberger K et al.
Embo Molecular Medicine, 2010
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
Yang SY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
García-Villoria J et al.
Clinical Biochemistry, 2009
Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Cazorla MR et al.
Pediatric Neurology, 2007
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Yang SY et al.
The Febs Journal, 2005
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Perez-Cerda C et al.
Pediatric Research, 2005
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
Ofman R et al.
American Journal of Human Genetics, 2003
Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase.
Yang SY et al.
Trends in Endocrinology and Metabolism: Tem, 0
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Yang SY et al.
Molecular Genetics and Metabolism, 0