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Items: 1 to 20 of 42

1.
The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report
Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang
Medicine (Baltimore) 2023 Oct 27; 102(43): e34853. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000034853
PMCID:
PMC10615552
AbstractArticlePDF–555K
2.
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
3.
Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
Marta Talaverón-Rey, Mónica Álvarez-Córdoba, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, David Gómez-Fernández, Ana Romero-González, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Paula Cilleros-Holgado, Diana Reche-López, Rocío Piñero-Pérez, José A. Sánchez-Alcázar
Orphanet J Rare Dis. 2023; 18: 80. Published online 2023 Apr 12. doi: 10.1186/s13023-023-02687-5
PMCID:
PMC10091671
AbstractArticlePDF–5.5M
4.
OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization
Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti
Science. Author manuscript; available in PMC 2022 Sep 11.
Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983
PMCID:
PMC9119736
AbstractArticlePDF–3.3M
5.
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
6.
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong, Sung Sup Park
Orphanet J Rare Dis. 2022; 17: 111. Published online 2022 Mar 4. doi: 10.1186/s13023-022-02251-7
PMCID:
PMC8896100
AbstractArticlePDF–1.1M
7.
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2
Maike Werning, Verena Dobretzberger, Martin Brenner, Ernst W. Müllner, Georg Mlynek, Kristina Djinovic-Carugo, David M. Baron, Lena Fragner, Almut T. Bischoff, Boriana Büchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer
Biomolecules. 2022 Feb; 12(2): 325. Published online 2022 Feb 18. doi: 10.3390/biom12020325
PMCID:
PMC8869601
AbstractArticlePDF–2.4M
8.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
9.
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes
Maike Werning, Ernst W. Müllner, Georg Mlynek, Verena Dobretzberger, Kristina Djinovic‐Carugo, David M. Baron, Holger Prokisch, Boriana Büchner, Thomas Klopstock, Ulrich Salzer
Ann Clin Transl Neurol. 2020 Aug; 7(8): 1340–1351. Published online 2020 Jul 23. doi: 10.1002/acn3.51127
PMCID:
PMC7448160
AbstractArticlePDF–2.5M
10.
Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D
Susan A. Kennedy, Mohamed-Ali Jarboui, Sriganesh Srihari, Cinzia Raso, Kenneth Bryan, Layal Dernayka, Theodosia Charitou, Manuel Bernal-Llinares, Carlos Herrera-Montavez, Aleksandar Krstic, David Matallanas, Max Kotlyar, Igor Jurisica, Jasna Curak, Victoria Wong, Igor Stagljar, Thierry LeBihan, Lisa Imrie, Priyanka Pillai, Miriam A. Lynn, Erik Fasterius, Cristina Al-Khalili Szigyarto, James Breen, Christina Kiel, Luis Serrano, Nora Rauch, Oleksii Rukhlenko, Boris N. Kholodenko, Luis F. Iglesias-Martinez, Colm J. Ryan, Ruth Pilkington, Patrizia Cammareri, Owen Sansom, Steven Shave, Manfred Auer, Nicola Horn, Franziska Klose, Marius Ueffing, Karsten Boldt, David J. Lynn, Walter Kolch
Nat Commun. 2020; 11: 499. Published online 2020 Jan 24. doi: 10.1038/s41467-019-14224-9
PMCID:
PMC6981206
AbstractArticlePDF–3.7M
11.
Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability
Divya Achuthankutty, Roshan Singh Thakur, Peter Haahr, Saskia Hoffmann, Alexandros P. Drainas, Anna H. Bizard, Joachim Weischenfeldt, Ian D. Hickson, Niels Mailand
J Cell Biol. 2019 Dec 2; 218(12): 3943–3953. Published online 2019 Oct 15. doi: 10.1083/jcb.201905064
PMCID:
PMC6891097
AbstractArticlePDF–2.7M
12.
Altered Neuronal Mitochondrial Coenzyme A Synthesis in Neurodegeneration with Brain Iron Accumulation Caused by Abnormal Processing, Stability, and Catalytic Activity of Mutant Pantothenate Kinase 2
Paul T. Kotzbauer, Adam C. Truax, John Q. Trojanowski, Virginia M.-Y. Lee
J Neurosci. 2005 Jan 19; 25(3): 689–698. doi: 10.1523/JNEUROSCI.4265-04.2005
PMCID:
PMC6725318
AbstractArticlePDF–475K
13.
Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance
Matthew F Pech, Linda E Fong, Jacqueline E Villalta, Leanne JG Chan, Samir Kharbanda, Jonathon J O'Brien, Fiona E McAllister, Ari J Firestone, Calvin H Jan, Jeffrey Settleman
eLife. 2019; 8: e47362. Published online 2019 Aug 27. doi: 10.7554/eLife.47362
PMCID:
PMC6713475
AbstractArticlePDF–4.6M
14.
Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy
Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115
PMCID:
PMC6077722
AbstractArticlePDF–2.4M
15.
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report
Xulai Shi, Feixia Zheng, Xiuyun Ye, Xiucui Li, Qianlei Zhao, Zhongdong Lin, Ying Hu, Jiwen Wang
Medicine (Baltimore) 2018 Apr; 97(15): e0316. Published online 2018 Apr 13. doi: 10.1097/MD.0000000000010316
PMCID:
PMC5908570
AbstractArticlePDF–246K
16.
Defective pantothenate metabolism and neurodegeneration
Susan J. Hayflick
Biochem Soc Trans. Author manuscript; available in PMC 2018 Apr 18.
Published in final edited form as: Biochem Soc Trans. 2014 Aug; 42(4): 1063–1068. doi: 10.1042/BST20140098
PMCID:
PMC5906047
AbstractArticlePDF–678K
17.
The deubiquitinase USP9X regulates FBW7 stability and suppresses colorectal cancer
Omar M. Khan, Joana Carvalho, Bradley Spencer-Dene, Richard Mitter, David Frith, Ambrosius P. Snijders, Stephen A. Wood, Axel Behrens
J Clin Invest. 2018 Apr 2; 128(4): 1326–1337. Published online 2018 Feb 26. doi: 10.1172/JCI97325
PMCID:
PMC5873885
AbstractArticlePDF–16M
18.
RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination
Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski
BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9
PMCID:
PMC5678581
AbstractArticlePDF–3.2M
19.
iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease
Charles Arber, Plamena R. Angelova, Sarah Wiethoff, Yugo Tsuchiya, Francesca Mazzacuva, Elisavet Preza, Kailash P. Bhatia, Kevin Mills, Ivan Gout, Andrey Y. Abramov, John Hardy, James A. Duce, Henry Houlden, Selina Wray
PLoS One. 2017; 12(9): e0184104. Published online 2017 Sep 1. doi: 10.1371/journal.pone.0184104
PMCID:
PMC5581181
AbstractArticlePDF–6.6M
20.
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BMC Med Genet. 2017; 18: 87. Published online 2017 Aug 18. doi: 10.1186/s12881-017-0439-y
PMCID:
PMC5562981
AbstractArticlePDF–2.1M

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