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Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease

International journal of molecular sciences, 2023-12, Vol.24 (24), p.17604

2023

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Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase

International journal of molecular sciences, 2023-05, Vol.24 (10), p.8487

2023

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The therapeutic effect of memantine through the stimulation of synapse formation and dendritic spine maturation in autism and fragile X syndrome

PloS one, 2012-05, Vol.7 (5), p.e36981-e36981

2012

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Development of a Quantitative FMRP Assay for Mouse Tissue Applications

Genes, 2021-09, Vol.12 (10), p.1516

2021

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Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

Neurobiology of disease, 2009-07, Vol.35 (1), p.52-62

2009

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Abstract 2419 Involvement of Mitochondrial Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Neurodegeneration including Alzheimer's disease

The Journal of biological chemistry, 2024-03, Vol.300 (3), p.106509, Article 106509

2024

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Abstract 2430 Why No Corrigenda Available for Endoplasmic Reticulum-Associated Abeta-Binding Protein/Abeta-Binding Alcohol Dehydrogenase Studies?

The Journal of biological chemistry, 2024-03, Vol.300 (3), p.106240, Article 106240

2024

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Infantile Neurodegeneration results from Mutants of 17β‐Hydroxysteroid Dehydrogenase Type 10 rather than Aβ‐Binding Alcohol Dehydrogenase

The FASEB journal, 2022-05, Vol.36 (S1), p.n/a

2022

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Alcohol and L‐3‐hydroxyacyl‐CoA dehydrogenases activities of human Aβ‐binding alcohol dehydrogenase and type 10 17β‐hydroxysteroid dehydrogenase

The FASEB journal, 2022-05, Vol.36 (S1), p.n/a

2022

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17β‐Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system

The FASEB journal, 2018-04, Vol.32 (S1), p.805.20-805.20

2018

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Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders

The Journal of steroid biochemistry and molecular biology, 2014-09, Vol.143, p.460-472

2014

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17β-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system

Molecular and cellular endocrinology, 2019-06, Vol.489, p.92-97

2019

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Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1148-1156

2019

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A novel cysteine sulfinic Acid decarboxylase knock-out mouse: comparison between newborn and weanling mice

Advances in experimental medicine and biology, 2015, Vol.803, p.3

2015

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Decreased GABA A receptor expression in the seizure-prone fragile X mouse

Neuroscience letters, 2005-04, Vol.377 (3), p.141-146

2005

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Decreased GABAA receptor expression in the seizure-prone fragile X mouse

Neuroscience letters, 2005-04, Vol.377 (3), p.141-146

2005

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A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation

Gene, 2013-02, Vol.515 (2), p.380-384

2013

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Fragile X protein in newborn dried blood spots

BMC medical genetics, 2014-10, Vol.15 (1), p.119-119, Article 119

2014

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Does the HSD17B10 gene escape from X-inactivation?

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.123-124

2011

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Reply to Duncan: Fragile X leads to X chromosome loss: Comments from a cytogeneticist

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1872-1873

2010

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Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: Fragile X leads to chromosome loss

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2152-2157

2009

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Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter

BMC biochemistry, 2013-07, Vol.14 (1), p.17-17

2013

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Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series

American journal of medical genetics. Part A, 2011-04, Vol.155 (4), p.870-874

2011

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Fragile X Prenatal Analysers Show Full Mutation Females at High Risk for Mosaic Turner Syndrome: Fragile X Leads to Chromosome Loss

American journal of medical genetics. Part A, 2009, Vol.149 (10), p.2152-2157

2009

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Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease

Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

The therapeutic effect of memantine through the stimulation of synapse formation and dendritic spine maturation in autism and fragile X syndrome

Development of a Quantitative FMRP Assay for Mouse Tissue Applications

Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

Abstract 2419 Involvement of Mitochondrial Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Neurodegeneration including Alzheimer's disease

Abstract 2430 Why No Corrigenda Available for Endoplasmic Reticulum-Associated Abeta-Binding Protein/Abeta-Binding Alcohol Dehydrogenase Studies?

Infantile Neurodegeneration results from Mutants of 17β‐Hydroxysteroid Dehydrogenase Type 10 rather than Aβ‐Binding Alcohol Dehydrogenase

Alcohol and L‐3‐hydroxyacyl‐CoA dehydrogenases activities of human Aβ‐binding alcohol dehydrogenase and type 10 17β‐hydroxysteroid dehydrogenase

17β‐Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system

Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders

17β-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

A novel cysteine sulfinic Acid decarboxylase knock-out mouse: comparison between newborn and weanling mice

Decreased GABA A receptor expression in the seizure-prone fragile X mouse

Decreased GABAA receptor expression in the seizure-prone fragile X mouse

A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation

Fragile X protein in newborn dried blood spots

Does the HSD17B10 gene escape from X-inactivation?

Reply to Duncan: Fragile X leads to X chromosome loss: Comments from a cytogeneticist

Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: Fragile X leads to chromosome loss

Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series

Fragile X Prenatal Analysers Show Full Mutation Females at High Risk for Mosaic Turner Syndrome: Fragile X Leads to Chromosome Loss

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