205 related articles for article (PubMed ID: 19706438)
1. Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
Yang SY; He XY; Olpin SE; Sutton VR; McMenamin J; Philipp M; Denman RB; Malik M
Proc Natl Acad Sci U S A; 2009 Sep; 106(35):14820-4. PubMed ID: 19706438
[TBL] [Abstract][Full Text] [Related]
2. 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; Li X; Lin R; Sheng H; Feng Z; Liu L
Metab Brain Dis; 2017 Dec; 32(6):2063-2071. PubMed ID: 28875337
[TBL] [Abstract][Full Text] [Related]
3. HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Yang SY; He XY; Miller D
Mol Genet Metab; 2007; 92(1-2):36-42. PubMed ID: 17618155
[TBL] [Abstract][Full Text] [Related]
4. A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
Yang SY; Dobkin C; He XY; Philipp M; Brown WT
Gene; 2013 Feb; 515(2):380-4. PubMed ID: 23266819
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Seaver LH; He XY; Abe K; Cowan T; Enns GM; Sweetman L; Philipp M; Lee S; Malik M; Yang SY
PLoS One; 2011; 6(11):e27348. PubMed ID: 22132097
[TBL] [Abstract][Full Text] [Related]
6. HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
Zschocke J
J Inherit Metab Dis; 2012 Jan; 35(1):81-9. PubMed ID: 22127393
[TBL] [Abstract][Full Text] [Related]
7. Hydroxysteroid (17β) dehydrogenase X in human health and disease.
Yang SY; He XY; Miller D
Mol Cell Endocrinol; 2011 Aug; 343(1-2):1-6. PubMed ID: 21708223
[TBL] [Abstract][Full Text] [Related]
8. Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.
He XY; Dobkin C; Brown WT; Yang SY
Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37239833
[TBL] [Abstract][Full Text] [Related]
9. Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase.
Yang SY; He XY; Schulz H
Trends Endocrinol Metab; 2005; 16(4):167-75. PubMed ID: 15860413
[TBL] [Abstract][Full Text] [Related]
10. The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T; Akiba K; Goto M; Kuwayama N; Morita M; Hori T; Aoyama Y; Venkatesan R; Wierenga R; Moriyama Y; Hashimoto T; Usuda N; Murayama K; Ohtake A; Hasegawa Y; Shigematsu Y; Hasegawa Y
J Hum Genet; 2014 Nov; 59(11):609-14. PubMed ID: 25231369
[TBL] [Abstract][Full Text] [Related]
11. A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Rauschenberger K; Schöler K; Sass JO; Sauer S; Djuric Z; Rumig C; Wolf NI; Okun JG; Kölker S; Schwarz H; Fischer C; Grziwa B; Runz H; Nümann A; Shafqat N; Kavanagh KL; Hämmerling G; Wanders RJ; Shield JP; Wendel U; Stern D; Nawroth P; Hoffmann GF; Bartram CR; Arnold B; Bierhaus A; Oppermann U; Steinbeisser H; Zschocke J
EMBO Mol Med; 2010 Feb; 2(2):51-62. PubMed ID: 20077426
[TBL] [Abstract][Full Text] [Related]
12. X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
García-Villoria J; Gort L; Madrigal I; Fons C; Fernández C; Navarro-Sastre A; Milà M; Briones P; García-Cazorla A; Campistol J; Ribes A
Eur J Hum Genet; 2010 Dec; 18(12):1353-5. PubMed ID: 20664630
[TBL] [Abstract][Full Text] [Related]
13. Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Deutschmann AJ; Amberger A; Zavadil C; Steinbeisser H; Mayr JA; Feichtinger RG; Oerum S; Yue WW; Zschocke J
Hum Mol Genet; 2014 Jul; 23(13):3618-28. PubMed ID: 24549042
[TBL] [Abstract][Full Text] [Related]
14. Roles of Mitochondrial 17β-Hydroxysteroid Dehydrogenase Type 10 in Alzheimer's Disease.
He XY; Isaacs C; Yang SY
J Alzheimers Dis; 2018; 62(2):665-673. PubMed ID: 29480196
[TBL] [Abstract][Full Text] [Related]
15. Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.
Yang SY; He XY; Isaacs C; Dobkin C; Miller D; Philipp M
J Steroid Biochem Mol Biol; 2014 Sep; 143():460-72. PubMed ID: 25007702
[TBL] [Abstract][Full Text] [Related]
16. Friend or enemy? Review of 17β-HSD10 and its role in human health or disease.
Vinklarova L; Schmidt M; Benek O; Kuca K; Gunn-Moore F; Musilek K
J Neurochem; 2020 Nov; 155(3):231-249. PubMed ID: 32306391
[TBL] [Abstract][Full Text] [Related]
17. HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Waters PJ; Lace B; Buhas D; Gravel S; Cyr D; Boucher RM; Bernard G; Lévesque S; Maranda B
Mol Genet Genomic Med; 2019 Dec; 7(12):e1000. PubMed ID: 31654490
[TBL] [Abstract][Full Text] [Related]
18. Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
He XY; Wegiel J; Yang SY
Brain Res; 2005 Apr; 1040(1-2):29-35. PubMed ID: 15804423
[TBL] [Abstract][Full Text] [Related]
19. Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Oerum S; Roovers M; Leichsenring M; Acquaviva-Bourdain C; Beermann F; Gemperle-Britschgi C; Fouilhoux A; Korwitz-Reichelt A; Bailey HJ; Droogmans L; Oppermann U; Sass JO; Yue WW
Biochim Biophys Acta Mol Basis Dis; 2017 Dec; 1863(12):3294-3302. PubMed ID: 28888424
[TBL] [Abstract][Full Text] [Related]
20. 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.
Shafqat N; Marschall HU; Filling C; Nordling E; Wu XQ; Björk L; Thyberg J; Mårtensson E; Salim S; Jörnvall H; Oppermann U
Biochem J; 2003 Nov; 376(Pt 1):49-60. PubMed ID: 12917011
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]