153 related articles for article (PubMed ID: 20664630)
1. 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]
2. 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]
3. Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.
Yang SY; Dobkin C; He XY; Brown WT
BMC Biochem; 2013 Jul; 14():17. PubMed ID: 23834306
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Does the HSD17B10 gene escape from X-inactivation?
He XY; Dobkin C; Yang SY
Eur J Hum Genet; 2011 Feb; 19(2):123-4; author reply 124. PubMed ID: 21081971
[No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Froyen G; Corbett M; Vandewalle J; Jarvela I; Lawrence O; Meldrum C; Bauters M; Govaerts K; Vandeleur L; Van Esch H; Chelly J; Sanlaville D; van Bokhoven H; Ropers HH; Laumonnier F; Ranieri E; Schwartz CE; Abidi F; Tarpey PS; Futreal PA; Whibley A; Raymond FL; Stratton MR; Fryns JP; Scott R; Peippo M; Sipponen M; Partington M; Mowat D; Field M; Hackett A; Marynen P; Turner G; Gécz J
Am J Hum Genet; 2008 Feb; 82(2):432-43. PubMed ID: 18252223
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. HSD10 disease in a female: A case report and review of literature.
Upadia J; Walano N; Noh GS; Liu J; Li Y; Deputy S; Elliott LT; Wong J; Lee JA; Caylor RC; Andersson HC
JIMD Rep; 2021 Nov; 62(1):35-43. PubMed ID: 34765396
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.
Bertolin G; Jacoupy M; Traver S; Ferrando-Miguel R; Saint Georges T; Grenier K; Ardila-Osorio H; Muriel MP; Takahashi H; Lees AJ; Gautier C; Guedin D; Coge F; Fon EA; Brice A; Corti O
Cell Death Differ; 2015 Oct; 22(10):1563-76. PubMed ID: 25591737
[TBL] [Abstract][Full Text] [Related]
18. A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
Falk MJ; Gai X; Shigematsu M; Vilardo E; Takase R; McCormick E; Christian T; Place E; Pierce EA; Consugar M; Gamper HB; Rossmanith W; Hou YM
RNA Biol; 2016 May; 13(5):477-85. PubMed ID: 26950678
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Comments on 'Significance of developmental expression of amphioxus Branchiostoma belcheri and zebrafish Danio rerio Hsd17b10 in biological and medical research'.
He X; Yang S
J Fish Biol; 2009 May; 74(8):1689-92. PubMed ID: 20735667
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]