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
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
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
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
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
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E et al.
Nucleic Acids Research, 2015
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
Bhatia C et al.
Chemico-biological Interactions, 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
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
HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
Zschocke J
Journal of Inherited Metabolic Disease, 2012
Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency.
Ortez C et al.
Journal of Alzheimer's Disease : Jad, 2011
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
García-Villoria J et al.
European Journal of Human Genetics : Ejhg, 2010
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