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Items: 1 to 20 of 158

1.
DNMT1 and DNMT3b silencing sensitizes human hepatoma cells to TRAIL‐mediated apoptosis via up‐regulation of TRAIL‐R2/DR5 and caspase‐8
Satoshi Kurita, Hajime Higuchi, Yoshimasa Saito, Nobuhiro Nakamoto, Hiromasa Takaishi, Shinichiro Tada, Hidetsugu Saito, Gregory J. Gores, Toshifumi Hibi
Cancer Sci. 2010 Jun; 101(6): 1431–1439. Published online 2010 Mar 13. doi: 10.1111/j.1349-7006.2010.01565.x
PMCID:
PMC11158615
AbstractArticlePDF–539K
2.
Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP
Avnika A. Ruparelia, Margo Montandon, Jo Merriner, Cheng Huang, Siew Fen Lisa Wong, Carmen Sonntag, Justin P. Hardee, Gordon S. Lynch, Lee B. Miles, Ashley Siegel, Thomas E. Hall, Ralf B. Schittenhelm, Peter D. Currie
JCI Insight. 2024 Apr 22; 9(8): e167578. Published online 2024 Mar 26. doi: 10.1172/jci.insight.167578
PMCID:
PMC11141880
AbstractArticlePDF–14M
3.
Glycolic acid and D-lactate—putative products of DJ-1—restore neurodegeneration in FUS - and SOD1-ALS
Arun Pal, Dajana Grossmann, Hannes Glaß, Vitaly Zimyanin, René Günther, Marica Catinozzi, Tobias M Boeckers, Jared Sterneckert, Erik Storkebaum, Susanne Petri, Florian Wegner, Stephan W Grill, Francisco Pan-Montojo, Andreas Hermann
Life Sci Alliance. 2024 Aug; 7(8): e202302535. Published online 2024 May 17. doi: 10.26508/lsa.202302535
PMCID:
PMC11101837
AbstractArticlePDF–3.0M
4.
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
Gregorio Serra, Vincenzo Antona, Vincenzo Insinga, Giusy Morgante, Alessia Vassallo, Simona La Placa, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Eloisa Gitto, Mario Giuffrè, Giovanni Corsello
Ital J Pediatr. 2024; 50: 67. Published online 2024 Apr 14. doi: 10.1186/s13052-024-01632-x
PMCID:
PMC11017661
AbstractArticlePDF–1.1M
5.
Chronological change of left ventricular global longitudinal strain in patients with maternally inherited diabetes and deafness: A case series
Jeong-Sook Seo
Medicine (Baltimore) 2024 Mar 8; 103(10): e37447. Published online 2024 Mar 8. doi: 10.1097/MD.0000000000037447
PMCID:
PMC10919458
AbstractArticlePDF–990K
6.
新生儿筛查发现的氨甲酰磷酸合成酶1缺乏症患儿长期随访研究
张 詹明, 童 凡, 陈 迟, 张 婷, 钱 古柃, 杨 昕, 黄 新文, 杨 茹莱, 赵 正言
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 721–726. Chinese. Published online 2023 Nov 14. doi: 10.3724/zdxbyxb-2023-0359
PMCID:
PMC10764181
AbstractArticlePDF–643K
7.
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review
Xu Zhang, Feng Xiang, Desheng Li, Fei Yang, Shengyuan Yu, Xiangqing Wang
BMC Neurol. 2024; 24: 15. Published online 2024 Jan 2. doi: 10.1186/s12883-023-03480-4
PMCID:
PMC10759640
AbstractArticlePDF–1.8M
8.
The tumor-enriched small molecule gambogic amide suppresses glioma by targeting WDR1-dependent cytoskeleton remodeling
Jiaorong Qu, Bojun Qiu, Yuxin Zhang, Yan Hu, Zhixing Wang, Zhiang Guan, Yiming Qin, Tongtong Sui, Fan Wu, Boyang Li, Wei Han, Xiaozhong Peng
Signal Transduct Target Ther. 2023; 8: 424. Published online 2023 Nov 8. doi: 10.1038/s41392-023-01666-3
PMCID:
PMC10630452
AbstractArticlePDF–5.7M
9.
Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report
Guiping Wu, Yijun Han, Lifeng Zhao, Hong Zhang, Xiuzhao Fan, Weiqin Li, Xiaowen Che, Yun Zhou
BMC Cardiovasc Disord. 2023; 23: 464. Published online 2023 Sep 15. doi: 10.1186/s12872-023-03444-z
PMCID:
PMC10503081
AbstractArticlePDF–1.2M
10.
Differential roles for ACBD4 and ACBD5 in peroxisome–ER interactions and lipid metabolism
Joseph L. Costello, Janet Koster, Beatriz S.C. Silva, Harley L. Worthy, Tina A. Schrader, Christian Hacker, Josiah Passmore, Frans A. Kuypers, Hans R. Waterham, Michael Schrader
J Biol Chem. 2023 Aug; 299(8): 105013. Published online 2023 Jul 4. doi: 10.1016/j.jbc.2023.105013
PMCID:
PMC10410513
AbstractArticlePDF–2.6M
11.
Mitochondrial carrier 1 (MTCH1) governs ferroptosis by triggering the FoxO1-GPX4 axis-mediated retrograde signaling in cervical cancer cells
Xuan Wang, Yuting Ji, Jingyi Qi, Shuaishuai Zhou, Sitong Wan, Chang Fan, Zhenglong Gu, Peng An, Yongting Luo, Junjie Luo
Cell Death Dis. 2023 Aug; 14(8): 508. Published online 2023 Aug 8. doi: 10.1038/s41419-023-06033-2
PMCID:
PMC10406804
AbstractArticlePDF–5.2M
12.
Dysregulation of mitochondrial translation caused by CBFB deficiency cooperates with mutant PIK3CA and is a vulnerability in breast cancer
Navdeep Malik, Young-Im Kim, Hualong Yan, Yu-Chou Tseng, Wendy du Bois, Gamze Ayaz, Andy D. Tran, Laura Vera-Ramirez, Howard Yang, Aleksandra M. Michalowski, Michael Kruhlak, Maxwell Lee, Kent W. Hunter, Jing Huang
Cancer Res. Author manuscript; available in PMC 2023 Oct 14.
Published in final edited form as: Cancer Res. 2023 Apr 14; 83(8): 1280–1298. doi: 10.1158/0008-5472.CAN-22-2525
PMCID:
PMC10106426
AbstractArticlePDF–1.4M
13.
Human menstrual blood-derived stem cells reverse sorafenib resistance in hepatocellular carcinoma cells through the hyperactivation of mitophagy
Sining Zhou, Yiming Liu, Qi Zhang, Huikang Xu, Yangxin Fang, Xin Chen, Jiamin Fu, Yin Yuan, Yifei Li, Li Yuan, Charlie Xiang
Stem Cell Res Ther. 2023; 14: 58. Published online 2023 Apr 1. doi: 10.1186/s13287-023-03278-8
PMCID:
PMC10068152
AbstractArticlePDF–12M
14.
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review
Qin Zhang, Qianqian Ouyang, Jingjing Xiang, Hong Li, Haitao Lv, Yu An
Genes (Basel) 2023 Mar; 14(3): 552. Published online 2023 Feb 22. doi: 10.3390/genes14030552
PMCID:
PMC10048406
AbstractArticlePDF–2.1M
15.
Caspase‐8‐driven apoptotic and pyroptotic crosstalk causes cell death and IL‐1β release in X‐linked inhibitor of apoptosis (XIAP) deficiency
Sebastian A Hughes, Meng Lin, Ashley Weir, Bing Huang, Liya Xiong, Ngee Kiat Chua, Jiyi Pang, Jascinta P Santavanond, Rochelle Tixeira, Marcel Doerflinger, Yexuan Deng, Chien‐Hsiung Yu, Natasha Silke, Stephanie A Conos, Daniel Frank, Daniel S Simpson, James M Murphy, Kate E Lawlor, Jaclyn S Pearson, John Silke, Marc Pellegrini, Marco J Herold, Ivan K H Poon, Seth L Masters, Mingsong Li, Qin Tang, Yuxia Zhang, Maryam Rashidi, Lanlan Geng, James E Vince
EMBO J. 2023 Mar; 42(5): e110468. Published online 2023 Jan 17. doi: 10.15252/embj.2021110468
PMCID:
PMC9975961
AbstractArticlePDF–4.4M
16.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy HC. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J. Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Am J Hum Genet. 2023 Jan 5; 110(1): 105–119. Published online 2022 Dec 8. doi: 10.1016/j.ajhg.2022.11.015
Correction in:
Am J Hum Genet. 2023 Jun 1; 110(6): 1018.
PMCID:
PMC9892775
AbstractArticlePDF–1.8M
17.
A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia
Balasundaram Kadirvelu, Constantinos Gavriel, Sathiji Nageshwaran, Jackson Ping Kei Chan, Suran Nethisinghe, Stavros Athanasopoulos, Valeria Ricotti, Thomas Voit, Paola Giunti, Richard Festenstein, A. Aldo Faisal
Nat Med. 2023; 29(1): 86–94. Published online 2023 Jan 19. doi: 10.1038/s41591-022-02159-6
PMCID:
PMC9873563
AbstractArticlePDF–5.1M
18.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati
Cell Death Dis. 2022 Nov; 13(11): 981. Published online 2022 Nov 21. doi: 10.1038/s41419-022-05410-7
PMCID:
PMC9678881
AbstractArticlePDF–8.2M
19.
Higher ATM expression in lymphoblastoid cell lines from centenarian compared with younger women
Adva Hadar, Irena Voinsky, Olga Parkhomenko, Monika Puzianowska‐Kuźnicka, Jacek Kuźnicki, Illana Gozes, David Gurwitz
Drug Dev Res. 2022 Sep; 83(6): 1419–1424. Published online 2022 Jun 30. doi: 10.1002/ddr.21972
PMCID:
PMC9545764
AbstractArticlePDF–903K
20.
Mitochondrial DNA Together with miR-142-3p in Plasma Can Predict Unfavorable Outcomes in Patients after Acute Myocardial Infarction
Teodora Barbalata, Alina I. Scarlatescu, Gabriela M. Sanda, Laura Toma, Camelia S. Stancu, Maria Dorobantu, Miruna M. Micheu, Anca V. Sima, Loredan S. Niculescu
Int J Mol Sci. 2022 Sep; 23(17): 9947. Published online 2022 Sep 1. doi: 10.3390/ijms23179947
PMCID:
PMC9456000
AbstractArticlePDF–2.8M

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