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Items: 1 to 20 of 109

1.
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer
Daniel R Crooks, Geetha Mariah Cawthon, Christina M Fitzsimmons, Minervo Perez, Christopher J Ricketts, Cathy D Vocke, Ye Yang, Lindsay Middelton, Debbie Nielsen, Laura S Schmidt, Mayank Tandon, Maria J Merino, Mark W Ball, Jordan L Meier, Pedro J Batista, William Marston Linehan
Hum Mol Genet. 2023 Nov 15; 32(22): 3135–3145. Published online 2023 Aug 10. doi: 10.1093/hmg/ddad131
PMCID:
PMC10630246
AbstractArticlePDF–1.5M
2.
FH variant pathogenicity promotes purine salvage pathway dependence in kidney cancer
Blake R. Wilde, Nishma Chakraborty, Nedas Matulionis, Stephanie Hernandez, Daiki Ueno, Michayla E. Gee, Edward D. Esplin, Karen Ouyang, Keith Nykamp, Brian Shuch, Heather R. Christofk
Cancer Discov. Author manuscript; available in PMC 2024 Mar 6.
Published in final edited form as: Cancer Discov. 2023 Sep 6; 13(9): 2072–2089. doi: 10.1158/2159-8290.CD-22-0874
PMCID:
PMC10527600
AbstractArticlePDF–2.4M
3.
Macrophage fumarate hydratase restrains mtRNA-mediated interferon production
Alexander Hooftman, Christian G. Peace, Dylan G. Ryan, Emily A. Day, Ming Yang, Anne F. McGettrick, Maureen Yin, Erica N. Montano, Lihong Huo, Juliana E. Toller-Kawahisa, Vincent Zecchini, Tristram A. J. Ryan, Alfonso Bolado-Carrancio, Alva M. Casey, Hiran A. Prag, Ana S. H. Costa, Gabriela De Los Santos, Mariko Ishimori, Daniel J. Wallace, Swamy Venuturupalli, Efterpi Nikitopoulou, Norma Frizzell, Cecilia Johansson, Alexander Von Kriegsheim, Michael P. Murphy, Caroline Jefferies, Christian Frezza, Luke A. J. O’Neill
Nature. Author manuscript; available in PMC 2023 Aug 9.
Published in final edited form as: Nature. 2023 Mar; 615(7952): 490–498. Published online 2023 Mar 8. doi: 10.1038/s41586-019-0000-0
PMCID:
PMC10411300
AbstractArticlePDF–5.8M
4.
Estimation of the Carrier Frequency of Fumarate Hydratase Alterations and Implications for Kidney Cancer Risk in Hereditary Leiomyomatosis and Renal Cancer
Brian Shuch, Shantao Li, Harvey Risch, Ranjit S. Bindra, Patrick D. McGillivray, Mark Gerstein
Cancer. Author manuscript; available in PMC 2023 Jul 3.
Published in final edited form as: Cancer. 2020 Aug 15; 126(16): 3657–3666. Published online 2020 May 15. doi: 10.1002/cncr.32914
PMCID:
PMC10316675
AbstractArticlePDF–759K
5.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
6.
TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1
François Le Guerroué, Eric N Bunker, William M Rosencrans, Jack T Nguyen, Mohammed A Basar, Achim Werner, Tsui-Fen Chou, Chunxin Wang, Richard J Youle
Mol Cell. Author manuscript; available in PMC 2024 Mar 16.
Published in final edited form as: Mol Cell. 2023 Mar 16; 83(6): 927–941.e8. Published online 2023 Mar 9. doi: 10.1016/j.molcel.2023.02.023
PMCID:
PMC10112281
AbstractArticlePDF–2.4M
7.
A Missense Mutation c.1132G > A in Fumarate Hydratase (FH) Leads to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome and Insights into Clinical Management in Uterine Leiomyomata
Yue Shi, Yan Xu, Chao Wang, Yiqing Chen, Xiaojun Ren, Yu Kang, Chao Wang
Genes (Basel) 2023 Mar; 14(3): 744. Published online 2023 Mar 18. doi: 10.3390/genes14030744
PMCID:
PMC10048203
AbstractArticlePDF–5.1M
8.
Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression
Wenjing Xiao, Jianqun Wang, Xiaojing Wang, Shuang Cai, Yanhua Guo, Lin Ye, Dan Li, Anpei Hu, Shikai Jin, Boling Yuan, Yi Zhou, Qilan Li, Qiangsong Tong, Liduan Zheng
Autophagy. 2022; 18(11): 2615–2635. Published online 2022 Mar 6. doi: 10.1080/15548627.2022.2044651
PMCID:
PMC9629121
AbstractArticlePDF–8.1M
9.
Spike S1 domain interactome in non-pulmonary systems: A role beyond the receptor recognition
Ilaria Iacobucci, Vittoria Monaco, Luisa Canè, Francesca Bibbò, Valentina Cioffi, Flora Cozzolino, Alfredo Guarino, Massimo Zollo, Maria Monti
Front Mol Biosci. 2022; 9: 975570. Published online 2022 Sep 26. doi: 10.3389/fmolb.2022.975570
PMCID:
PMC9550266
AbstractArticlePDF–2.5M
10.
Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas
Angela Yoo, Cerise Tang, Mark Zucker, Kelly Fitzgerald, Renzo G. DiNatale, Phillip M. Rappold, Kate Weiss, Benjamin Freeman, Chung-Han Lee, Nikolaus Schultz, Robert Motzer, Paul Russo, Jonathan Coleman, Victor E. Reuter, Ying-Bei Chen, Maria I. Carlo, Anthony J. Gill, Ritesh R. Kotecha, A. Ari Hakimi, Ed Reznik
Eur Urol Focus. Author manuscript; available in PMC 2022 Dec 6.
Published in final edited form as: Eur Urol Focus. 2022 Sep; 8(5): 1278–1288. Published online 2022 Mar 11. doi: 10.1016/j.euf.2021.12.002
PMCID:
PMC9464266
AbstractArticlePDF–1.4M
11.
C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways
David R. Amici, Daniel J. Ansel, Kyle A. Metz, Roger S. Smith, Claire M. Phoumyvong, Sitaram Gayatri, Tomasz Chamera, Stacey L. Edwards, Brendan P. O’Hara, Shashank Srivastava, Sonia Brockway, Seesha R. Takagishi, Byoung-Kyu Cho, Young Ah Goo, Neil L. Kelleher, Issam Ben-Sahra, Daniel R. Foltz, Jian Li, Marc L. Mendillo
Proc Natl Acad Sci U S A. 2022 Jul 5; 119(27): e2111262119. Published online 2022 Jul 1. doi: 10.1073/pnas.2111262119
PMCID:
PMC9271168
AbstractArticlePDF–2.6M
12.
Fumarate Hydratase Variant Prevalence and Manifestations Among Individuals Receiving Germline Testing
Eric Lu, Kathryn E. Hatchell, Sarah M. Nielsen, Edward D. Esplin, Karen Ouyang, Keith Nykamp, Shirin Zavoshi, Shantao Li, Liying Zhang, Blake R. Wilde, Heather R. Christofk, Paul C. Boutros, Brian Shuch
Cancer. Author manuscript; available in PMC 2022 Jun 6.
Published in final edited form as: Cancer. 2022 Feb 15; 128(4): 675–684. Published online 2021 Nov 1. doi: 10.1002/cncr.33997
PMCID:
PMC9170268
AbstractArticlePDF–702K
13.
Clues to Recognition of Fumarate Hydratase-Deficient Renal Cell Carcinoma: Findings From Cytologic and Limited Biopsy Samples
Irene Shyu, Leili Mirsadraei, Xiaoyan Wang, Valentina Robila, Rohit Mehra, Jonathan B. McHugh, Ying-Bei Chen, Aaron M. Udager, Anthony J. Gill, Liang Cheng, Mahul B. Amin, Oscar Lin, Steven Christopher Smith
Cancer Cytopathol. Author manuscript; available in PMC 2022 May 18.
Published in final edited form as: Cancer Cytopathol. 2018 Dec; 126(12): 992–1002. Published online 2018 Oct 19. doi: 10.1002/cncy.22071
PMCID:
PMC9116881
AbstractArticlePDF–2.9M
14.
Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors
Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen
Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638
PMCID:
PMC9106303
AbstractArticlePDF–918K
15.
The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside
Xin Sun, Yeting Hong, Yuhan Shu, Caixia Wu, Guiqin Ye, Hanxiao Chen, Hongying Zhou, Ruilan Gao, Jianbin Zhang
J Ginseng Res. 2022 Mar; 46(2): 266–274. Published online 2021 Jul 8. doi: 10.1016/j.jgr.2021.06.009
PMCID:
PMC9058836
AbstractArticlePDF–2.9M
16.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
17.
Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas
Ping Li, Yanru Wu, Huizhi Wu, Qiuhong Xiong, Na Zhao, Guangxin Chen, Changxin Wu, Han Xiao
Int J Mol Sci. 2022 Feb; 23(3): 1452. Published online 2022 Jan 27. doi: 10.3390/ijms23031452
PMCID:
PMC8836152
AbstractArticlePDF–23M
18.
Host E3 ligase HUWE1 attenuates the proapoptotic activity of the MERS-CoV accessory protein ORF3 by promoting its ubiquitin-dependent degradation
Yuzheng Zhou, Rong Zheng, Sixu Liu, Cyrollah Disoma, Ashuai Du, Shiqin Li, Zongpeng Chen, Zijun Dong, Yongxing Zhang, Sijia Li, Pinjia Liu, Aroona Razzaq, Xuan Chen, Yujie Liao, Siyi Tao, Yuxin Liu, Lunan Xu, Qianjun Zhang, Jian Peng, Xu Deng, Shanni Li, Taijiao Jiang, Zanxian Xia
J Biol Chem. 2022 Feb; 298(2): 101584. Published online 2022 Jan 13. doi: 10.1016/j.jbc.2022.101584
PMCID:
PMC8755419
AbstractArticlePDF–3.5M
19.
The interactome of CLUH reveals its association to SPAG5 and its co-translational proximity to mitochondrial proteins
Mickaële Hémono, Alexandre Haller, Johana Chicher, Anne-Marie Duchêne, Richard Patryk Ngondo
BMC Biol. 2022; 20: 13. Published online 2022 Jan 10. doi: 10.1186/s12915-021-01213-y
PMCID:
PMC8744257
AbstractArticlePDF–6.0M
20.
Uterine leiomyoma with fumarate hydratase deficiency: A case report
Yan Huang, Yan Zhou, Xing Chen, Qin Fang, Huiran Cai, Manxin Xie, Yan Xing
Medicine (Baltimore) 2021 Dec 10; 100(49): e28142. Published online 2021 Dec 10. doi: 10.1097/MD.0000000000028142
PMCID:
PMC8663909
AbstractArticlePDF–824K

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