Associated Papers
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
HSD10 disease in a female: A case report and review of literature.
Upadia J et al.
Jimd Reports, 2021
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 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
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
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
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
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
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