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Select item 106155521.

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

Abstract Article PDF–555K

Select item 102374222.

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

Abstract Article PDF–23M

Select item 100916713.

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

Abstract Article PDF–5.5M

Select item 91197364.

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

Abstract Article PDF–3.3M

Select item 88970225.

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

Abstract Article PDF–3.0M

Select item 88961006.

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

Abstract Article PDF–1.1M

Select item 88696017.

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

Abstract Article PDF–2.4M

Select item 81650308.

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

Abstract Article PDF–2.2M

Select item 74481609.

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

Abstract Article PDF–2.5M

Select item 698120610.

Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS^G13D

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

Abstract Article PDF–3.7M

Select item 689109711.

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

Abstract Article PDF–2.7M

Select item 672531812.

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

Abstract Article PDF–475K

Select item 671347513.

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

Abstract Article PDF–4.6M

Select item 607772214.

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

Abstract Article PDF–2.4M

Select item 590857015.

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

Abstract Article PDF–246K

Select item 590604716.

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

Abstract Article PDF–678K

Select item 587388517.

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

Abstract Article PDF–16M

Select item 567858118.

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

Abstract Article PDF–3.2M

Select item 558118119.

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

Abstract Article PDF–6.6M

Select item 556298120.

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

Abstract Article PDF–2.1M

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PMC Links for GEO Profiles (Select 7039789) (42)
PMC
Bacillus subtilis strain 179-F 10A1 HS NODE_1_length_1080550_cov_272.616224, who...
Bacillus subtilis strain 179-F 10A1 HS NODE_1_length_1080550_cov_272.616224, whole genome shotgun sequence
gi|2059209801|ref|NZ_JAHHYD01000000 gnl|WGS:NZ_JAHHYD01|NODE_1_length_1080550_cov_272.616224

Nucleotide
txid345143[Organism] (4)
BioSample
anoctamin-10 isoform X1 [Rattus norvegicus]
anoctamin-10 isoform X1 [Rattus norvegicus]
gi|1958800175|ref|XP_038938700.1|

Protein
os33c04.s1 NCI_CGAP_Br2 Homo sapiens cDNA clone IMAGE:1607142 3', mRNA sequence
os33c04.s1 NCI_CGAP_Br2 Homo sapiens cDNA clone IMAGE:1607142 3', mRNA sequence
gi|3182548|gnl|dbEST|1733694|gb|AA9 .1|

Nucleotide

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