Hydroxysteroid (17β) dehydrogenase X in human health and disease

[1]  S. Pulst,et al.  Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. , 1990, American journal of human genetics.

[2]  Xi Chen,et al.  An intracellular protein that binds amyloid-β peptide and mediates neurotoxicity in Alzheimer's disease , 1997, Nature.

[3]  Song-Yu Yang,et al.  A Human Brain l-3-Hydroxyacyl-coenzyme A Dehydrogenase Is Identical to an Amyloid β-Peptide-binding Protein Involved in Alzheimer’s Disease* , 1998, The Journal of Biological Chemistry.

[4]  R. Kooy,et al.  A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. , 1999, American journal of human genetics.

[5]  Song-Yu Yang,et al.  Human Brain Short Chain l-3-Hydroxyacyl Coenzyme A Dehydrogenase Is a Single-domain Multifunctional Enzyme , 1999, The Journal of Biological Chemistry.

[6]  Steven G. Clarke,et al.  Role of ERAB/l-3-Hydroxyacyl-coenzyme A Dehydrogenase Type II Activity in Aβ-induced Cytotoxicity* , 1999, The Journal of Biological Chemistry.

[7]  L. Tjernberg,et al.  Binding of amyloid β‐peptide to mitochondrial hydroxyacyl‐CoA dehydrogenase (ERAB): regulation of an SDR enzyme activity with implications for apoptosis in Alzheimer's disease , 1999 .

[8]  M. Frosch,et al.  Amyloid beta -peptide-binding alcohol dehydrogenase is a component of the cellular response to nutritional stress. , 2000, The Journal of biological chemistry.

[9]  Song-Yu Yang,et al.  Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase. , 2000, The Biochemical journal.

[10]  R. Wanders,et al.  Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism , 2000, Pediatric Research.

[11]  Song-Yu Yang,et al.  Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism. , 2000, Biochimica et biophysica acta.

[12]  S. Yang,et al.  Role of type 10 17beta-hydroxysteroid dehydrogenase in the pathogenesis of Alzheimer's disease. , 2001, Advances in experimental medicine and biology.

[13]  Song-Yu Yang,et al.  Characterization and localization of human type10 17β-hydroxysteroid dehydrogenase , 2001 .

[14]  D. Selkoe.  Alzheimer's disease: genes, proteins, and therapy. , 2001, Physiological reviews.

[15]  G. Merz,et al.  Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase. , 2001, European journal of biochemistry.

[16]  A. Probst,et al.  Neuropathology and Genetics of Dementia , 2001, Advances in Experimental Medicine and Biology.

[17]  D. Lin,et al.  Molecular cloning, modeling, and localization of rat type 10 17β-hydroxysteroid dehydrogenase 1 Nucleotide sequences of cDNAs of rat and mouse type 10 17β-HSDs have been deposited in the GeneBank™/EBI Data Bank with accession number AF069770 and AF233685, respectively. 1 , 2001, Molecular and Cellular Endocrinology.

[18]  D. Lin,et al.  Abundant type 10 17 beta-hydroxysteroid dehydrogenase in the hippocampus of mouse Alzheimer's disease model. , 2002, Brain research. Molecular brain research.

[19]  Ronald J A Wanders,et al.  Clinical variability in 3‐hydroxy‐2‐methylbutyryl‐coa dehydrogenase deficiency , 2002, Annals of neurology.

[20]  Song-Yu Yang,et al.  Oxidative 3alpha-hydroxysteroid dehydrogenase activity of human type 10 17beta-hydroxysteroid dehydrogenase. , 2003, The Journal of steroid biochemistry and molecular biology.

[21]  J. Thyberg,et al.  Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD. , 2003, The Biochemical journal.

[22]  Song-Yu Yang,et al.  Oxidative 3α-hydroxysteroid dehydrogenase activity of human type 10 17β-hydroxysteroid dehydrogenase , 2003, The Journal of Steroid Biochemistry and Molecular Biology.

[23]  R. Wanders,et al.  UvA-DARE ( Digital Academic Repository ) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH 2 gene , 2003 .

[24]  Xi Chen,et al.  Materials and Methods Som Text Figs. S1 and S2 Table S1 References Abad Directly Links A␤ to Mitochondrial Toxicity in Alzheimer's Disease , 2022 .

[25]  D. Koshland.  Crazy, but correct , 2004, Nature.

[26]  Ronald J A Wanders,et al.  2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease , 2005, Pediatric Research.

[27]  Song-Yu Yang,et al.  Multiple functions of type 10 17β-hydroxysteroid dehydrogenase , 2005, Trends in Endocrinology & Metabolism.

[28]  Song-Yu Yang,et al.  Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase. , 2005, Trends in endocrinology and metabolism: TEM.

[29]  Song-Yu Yang,et al.  Type 10 17beta-hydroxysteroid dehydrogenase catalyzing the oxidation of steroid modulators of γ-aminobutyric acid type A receptors , 2005, Molecular and Cellular Endocrinology.

[30]  J. Wegiel,et al.  Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase , 2005, Brain Research.

[31]  Song-Yu Yang,et al.  3‐Hydroxyacyl‐CoA dehydrogenase and short chain 3‐hydroxyacyl‐CoA dehydrogenase in human health and disease , 2005, The FEBS journal.

[32]  J. Quinn,et al.  Mitochondria are a direct site of A beta accumulation in Alzheimer's disease neurons: implications for free radical generation and oxidative damage in disease progression. , 2006, Human molecular genetics.

[33]  Hong Gu,et al.  Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia , 2006, Neurobiology of Aging.

[34]  Pedro A Fernandes,et al.  Comparative evolutionary genomics of the HADH2 gene encoding Aβ-binding alcohol dehydrogenase/17β-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10) , 2006, BMC Genomics.

[35]  S. Yang,et al.  Roles of type 10 17beta-hydroxysteroid dehydrogenase in intracrinology and metabolism of isoleucine and fatty acids. , 2006, Endocrine, metabolic & immune disorders drug targets.

[36]  He Xy,et al.  Roles of type 10 17beta-hydroxysteroid dehydrogenase in intracrinology and metabolism of isoleucine and fatty acids. , 2006 .

[37]  Huaxi Xu,et al.  Estrogen, β‐Amyloid Metabolism/Trafficking, and Alzheimer's Disease , 2006, Annals of the New York Academy of Sciences.

[38]  M. Dierssen,et al.  Protein expression of BACE1, BACE2 and APP in Down syndrome brains , 2008, Amino Acids.

[39]  Song-Yu Yang,et al.  HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. , 2007, Molecular genetics and metabolism.

[40]  C. Schwartz,et al.  The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. , 2007, American journal of human genetics.

[41]  HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. , 2007, Molecular genetics and metabolism.

[42]  Peter Marynen,et al.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. , 2008, American journal of human genetics.

[43]  Petr Zach,et al.  Lateralization of 17Beta-Hydroxysteroid Dehydrogenase Type 10 in Hippocampi of Demented and Psychotic People , 2008, Dementia and Geriatric Cognitive Disorders.

[44]  K. Bennett,et al.  RNase P without RNA: Identification and Functional Reconstitution of the Human Mitochondrial tRNA Processing Enzyme , 2008, Cell.

[45]  F. Chibon,et al.  Molecular characterization of the response to chemotherapy in conventional osteosarcomas: Predictive value of HSD17B10 and IFITM2 , 2009, International journal of cancer.

[46]  Comments on 'Significance of developmental expression of amphioxus Branchiostoma belcheri and zebrafish Danio rerio Hsd17b10 in biological and medical research'. , 2009, Journal of fish biology.

[47]  M. Malik,et al.  Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism , 2009, Proceedings of the National Academy of Sciences.

[48]  J. Adamski,et al.  Integrated view on 17beta-hydroxysteroid dehydrogenases , 2009, Molecular and Cellular Endocrinology.

[49]  L. Neyses,et al.  Estrogen receptor alpha interacts with 17beta-hydroxysteroid dehydrogenase type 10 in mitochondria. , 2009, Biochemical and biophysical research communications.

[50]  C. Pérez-Cerdá,et al.  Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. , 2009, Clinical biochemistry.

[51]  S. Ohta,et al.  Cytoprotective role of mitochondrial amyloid β peptide-binding alcohol dehydrogenase against a cytotoxic aldehyde , 2009, Neurobiology of Aging.

[52]  Jan Klaschka,et al.  Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis. , 2009, Molecular bioSystems.

[53]  U. Francke.  On the bumpy road towards ‘personalized medicine’ , 2010, EMBO molecular medicine.

[54]  K. Kavanagh,et al.  A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival , 2010, EMBO molecular medicine.

[55]  F. Gunn-Moore,et al.  (-)-CHANA, a fluorogenic probe for detecting amyloid binding alcohol dehydrogenase HSD10 activity in living cells. , 2010, ACS chemical biology.

[56]  A. Ribes,et al.  X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency , 2010, European Journal of Human Genetics.

[57]  George Perry,et al.  Alzheimer's disease: diverse aspects of mitochondrial malfunctioning. , 2010, International journal of clinical and experimental pathology.

[58]  Song-Yu Yang,et al.  Does the HSD17B10 gene escape from X-inactivation? , 2011, European Journal of Human Genetics.

[59]  N. Greig,et al.  Targets for AD treatment: conflicting messages from γ‐secretase inhibitors , 2011, Journal of neurochemistry.

[60]  A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability , 2011, PloS one.