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Items: 1 to 20 of 110

1.
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis
Lane Savage, Stacie D. Adams, Kiely James, Shimul Chowdhury, Surender Rajasekaran, Jeremy W. Prokop, Caleb Bupp
Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005496. doi: 10.1101/mcs.a005496
PMCID:
PMC7784488
AbstractArticlePDF–2.2M
2.
Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer
Huichao Huang, Ruijie Liu, Yahui Huang, Yilu Feng, Ying Fu, Lin Chen, Zhuchu Chen, Yi Cai, Ye Zhang, Yongheng Chen
Aging (Albany NY) 2020 Jul 31; 12(14): 14699–14717. Published online 2020 Jul 17. doi: 10.18632/aging.103530
PMCID:
PMC7425433
AbstractArticlePDF–2.3M
3.
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu, Yi-Min Sun
BMC Med Genet. 2017; 18: 91. Published online 2017 Aug 23. doi: 10.1186/s12881-017-0453-0
PMCID:
PMC5568266
AbstractArticlePDF–1.2M
4.
Pathological complete response of HER2-positive breast cancer to trastuzumab and chemotherapy can be predicted by HSD17B4 methylation
Satoshi Fujii, Satoshi Yamashita, Takeshi Yamaguchi, Masato Takahashi, Yasuo Hozumi, Toshikazu Ushijima, Hirofumi Mukai
Oncotarget. 2017 Mar 21; 8(12): 19039–19048. Published online 2017 Feb 6. doi: 10.18632/oncotarget.15118
PMCID:
PMC5386667
AbstractArticlePDF–2.5M
5.
Acetylation targets HSD17B4 for degradation via the CMA pathway in response to estrone
Ye Zhang, Ying-Ying Xu, Chuan-Bo Yao, Jin-Tao Li, Xiang-Ning Zhao, Hong-Bin Yang, Min Zhang, Miao Yin, Jing Chen, Qun-Ying Lei
Autophagy. 2017; 13(3): 538–553. Published online 2017 Feb 22. doi: 10.1080/15548627.2016.1268302
PMCID:
PMC5361611
AbstractArticlePDF–1.7M
6.
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex MacKenzie, Chandree L Beaulieu, Petra A W Mooyer, Ronald J A Wanders, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Sacha Ferdinandusse, Kym M Boycott
Orphanet J Rare Dis. 2012; 7: 90. Published online 2012 Nov 22. doi: 10.1186/1750-1172-7-90
PMCID:
PMC3551712
AbstractArticlePDF–1.9M
7.
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Sarah B. Pierce, Tom Walsh, Karen M. Chisholm, Ming K. Lee, Anne M. Thornton, Agata Fiumara, John M. Opitz, Ephrat Levy-Lahad, Rachel E. Klevit, Mary-Claire King
Am J Hum Genet. 2010 Aug 13; 87(2): 282–288. doi: 10.1016/j.ajhg.2010.07.007
PMCID:
PMC2917704
AbstractArticlePDF–538K
8.
Novel Subtype of Peroxisomal Acyl-CoA Oxidase Deficiency and Bifunctional Enzyme Deficiency with Detectable Enzyme Protein: Identification by Means of Complementation Analysis
Yasuyuki Suzuki, Nobuyuki Shimozawa, Shigehiro Yajima, Shunji Tomatsu, Naomi Kondo, Yukikatsu Nakada, Shinjiro Akaboshi, Mizue Iai, Yuzo Tanabe, Takashi Hashimoto, Ronald J. A. Wanders, Ruud B. H. Schutgens, Hugo W. Moser, Tadao Orii
Am J Hum Genet. 1994 Jan; 54(1): 36–43.
PMCID:
PMC1918057
SummaryPage BrowsePDF–2.1M
9.
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
E G van Grunsven, E van Berkel, P A Mooijer, P A Watkins, H W Moser, Y Suzuki, L L Jiang, T Hashimoto, G Hoefler, J Adamski, R J Wanders
Am J Hum Genet. 1999 Jan; 64(1): 99–107. doi: 10.1086/302180
PMCID:
PMC1377707
SummaryPDF–1.0M
10.
Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein
S. Ferdinandusse, E. G. van Grunsven, W. Oostheim, S. Denis, E. M. Hogenhout, L. IJlst, C. W. T. van Roermund, H. R. Waterham, S. Goldfischer, R. J. A. Wanders
Am J Hum Genet. 2002 Jun; 70(6): 1589–1593. Published online 2002 Apr 23. doi: 10.1086/340970
PMCID:
PMC379147
AbstractArticlePDF–143K
11.
Peroxisomal bifunctional enzyme deficiency.
P A Watkins, W W Chen, C J Harris, G Hoefler, S Hoefler, D C Blake, Jr, A Balfe, R I Kelley, A B Moser, M E Beard, et al.
J Clin Invest. 1989 Mar; 83(3): 771–777. doi: 10.1172/JCI113956
PMCID:
PMC303746
SummaryPage BrowsePDF–1.8M
12.
The Peroxisomal Localization of Hsd17b4 Is Regulated by Its Interaction with Phosphatidylserine
Sang-Ah Lee, Juyeon Lee, Kwanhyeong Kim, Hyunji Moon, Chanhyuk Min, Byeongjin Moon, Deokhwan Kim, Susumin Yang, Hyunjin Park, Gwangrog Lee, Raekil Park, Daeho Park
Mol Cells. 2021 Apr 30; 44(4): 214–222. Published online 2021 Apr 27. doi: 10.14348/molcells.2021.2217
PMCID:
PMC8112170
AbstractArticlePDF–5.2M
13.
On the Molecular Basis of D-Bifunctional Protein Deficiency Type III
Maija L. Mehtälä, Marc F. Lensink, Laura P. Pietikäinen, J. Kalervo Hiltunen, Tuomo Glumoff
PLoS One. 2013; 8(1): e53688. Published online 2013 Jan 7. doi: 10.1371/journal.pone.0053688
PMCID:
PMC3538638
AbstractArticlePDF–550K
14.
Identification of a Substrate-binding Site in a Peroxisomal β-Oxidation Enzyme by Photoaffinity Labeling with a Novel Palmitoyl Derivative
Yoshinori Kashiwayama, Takenori Tomohiro, Kotomi Narita, Miyuki Suzumura, Tuomo Glumoff, J. Kalervo Hiltunen, Paul P. Van Veldhoven, Yasumaru Hatanaka, Tsuneo Imanaka
J Biol Chem. 2010 Aug 20; 285(34): 26315–26325. Published online 2010 Jun 21. doi: 10.1074/jbc.M110.104547
PMCID:
PMC2924054
AbstractArticlePDF–1.5M
15.
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.
Y Suzuki, L L Jiang, M Souri, S Miyazawa, S Fukuda, Z Zhang, M Une, N Shimozawa, N Kondo, T Orii, T Hashimoto
Am J Hum Genet. 1997 Nov; 61(5): 1153–1162. doi: 10.1086/301599
PMCID:
PMC1716023
SummaryPage BrowsePDF–2.2M
16.
Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis
Sacha Ferdinandusse, Mari S. Ylianttila, Jolein Gloerich, M. Kristian Koski, Wendy Oostheim, Hans R. Waterham, J. Kalervo Hiltunen, Ronald J. A. Wanders, Tuomo Glumoff
Am J Hum Genet. 2006 Jan; 78(1): 112–124. Published online 2005 Nov 15. doi: 10.1086/498880
PMCID:
PMC1380208
AbstractArticlePDF–1.4M
17.
The role of alpha-methylacyl-CoA racemase in bile acid synthesis.
Dean A Cuebas, Christopher Phillips, Werner Schmitz, Ernst Conzelmann, Dmitry K Novikov
Biochem J. 2002 May 1; 363(Pt 3): 801–807. doi: 10.1042/0264-6021:3630801
PMCID:
PMC1222534
SummaryPDF–163K
18.
Molecular cloning of a novel widely expressed human 80 kDa 17 beta-hydroxysteroid dehydrogenase IV.
J Adamski, T Normand, F Leenders, D Monté, A Begue, D Stéhelin, P W Jungblut, Y de Launoit
Biochem J. 1995 Oct 15; 311(Pt 2): 437–443. doi: 10.1042/bj3110437
PMCID:
PMC1136019
SummaryPage BrowsePDF–1.8M
19.
Peroxisomal d-hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency
Elisabeth G. van Grunsven, Emanuel van Berkel, Lodewijk Ijlst, Peter Vreken, Johannis B. C. de Klerk, Jerzy Adamski, Hugh Lemonde, Peter T. Clayton, Dean A. Cuebas, Ronald J. A. Wanders
Proc Natl Acad Sci U S A. 1998 Mar 3; 95(5): 2128–2133. doi: 10.1073/pnas.95.5.2128
PMCID:
PMC19272
AbstractArticlePDF–194K
20.
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4
Sara Violante, Nihad Achetib, Carlo W. T. van Roermund, Jacob Hagen, Tetyana Dodatko, Frédéric M. Vaz, Hans R. Waterham, Hongjie Chen, Myriam Baes, Chunli Yu, Carmen A. Argmann, Sander M. Houten
FASEB J. 2019 Mar; 33(3): 4355–4364. Published online 2018 Dec 12. doi: 10.1096/fj.201801498R
PMCID:
PMC6404569
AbstractArticle

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