PMC Links for Protein (Select 4504505) - PMC

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Items: 10

Select item 55682661.

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

Abstract Article PDF–1.2M

Select item 53866672.

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

Abstract Article PDF–2.5M

Select item 53616113.

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

Abstract Article PDF–1.7M

Select item 19180574.

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

Summary Page Browse PDF–2.1M

Select item 11360195.

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

Summary Page Browse PDF–1.8M

Select item 3037466.

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

Summary Page Browse PDF–1.8M

Select item 54711567.

Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity

Shirou Tsuchida, Akihiro Osaka, Yuya Abe, Naoya Hamaue, Takashi Aoki

Mol Genet Metab Rep. 2015 Mar; 2: 41–45. Published online 2014 Dec 18. doi: 10.1016/j.ymgmr.2014.12.003

PMCID:: PMC5471156

Abstract Article PDF–592K

Select item 50704138.

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

David J. Amor, Ashley P.L. Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B. Delatycki, Kate Pope, Catherine Bromhead, Richard J. Leventer, Melanie Bahlo, Paul J. Lockhart

Neurol Genet. 2016 Dec; 2(6): e114. Published online 2016 Oct 18. doi: 10.1212/NXG.0000000000000114