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Items: 1 to 20 of 93

1.
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli
Orphanet J Rare Dis. 2023; 18: 177. Published online 2023 Jul 5. doi: 10.1186/s13023-023-02780-9
Correction in:
Orphanet J Rare Dis. 2023; 18: 190.
PMCID:
PMC10320940
AbstractArticlePDF–1.5M
2.
PLA2G6‐associated late‐onset parkinsonism in a Sudanese family
Yousuf Bakhit, Christelle Tesson, Mohamed O. Ibrahim, Khalid Eltom, Isra Eltazi, Liena E.O. Elsayed, Suzanne Lesage, Osheik Seidi, Jean‐Christophe Corvol, Ullrich Wüllner, Sudanese Parkinson's Disease Study Group
Ann Clin Transl Neurol. 2023 Jun; 10(6): 983–989. Published online 2023 May 3. doi: 10.1002/acn3.51781
PMCID:
PMC10270271
AbstractArticlePDF–4.8M
3.
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
4.
Molecular Basis of Unique Specificity and Regulation of Group VIA Calcium-Independent Phospholipase A2 (PNPLA9) and Its Role in Neurodegenerative Diseases
Daiki Hayashi, Edward A. Dennis
Pharmacol Ther. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Pharmacol Ther. 2023 May; 245: 108395. Published online 2023 Mar 27. doi: 10.1016/j.pharmthera.2023.108395
PMCID:
PMC10174669
AbstractArticlePDF–1.9M
5.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
6.
Characterisation of PLA2G6 as a locus for dystonia-parkinsonism
Coro Paisan-Ruiz, Kailash P Bhatia, Abi Li, Dena Hernandez, Mary Davis, Nick W Wood, John Hardy, Henry Houlden, Andrew Singleton, Susanne A Schneider
Ann Neurol. Author manuscript; available in PMC 2022 Apr 19.
Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 19–23. doi: 10.1002/ana.21415
PMCID:
PMC9016626
AbstractArticlePDF–279K
7.
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease
Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network , Guney Bademci, Mustafa Tekin
Mol Genet Genomic Med. 2022 Apr; 10(4): e1892. Published online 2022 Mar 5. doi: 10.1002/mgg3.1892
PMCID:
PMC9000935
AbstractArticlePDF–864K
8.
Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy
Dorsa Rostampour, Mohammad Reza Zolfaghari, Milad Gholami
J Clin Lab Anal. 2022 Mar; 36(3): e24253. Published online 2022 Jan 29. doi: 10.1002/jcla.24253
PMCID:
PMC8906051
AbstractArticlePDF–406K
9.
Neurodegeneration with brain iron accumulation
SUSAN J. HAYFLICK, MANJU A. KURIAN, PENELOPE HOGARTH
Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 26.
Published in final edited form as: Handb Clin Neurol. 2018; 147: 293–305. doi: 10.1016/B978-0-444-63233-3.00019-1
PMCID:
PMC8235601
AbstractArticlePDF–695K
10.
iPLA2β Contributes to ER Stress-Induced Apoptosis during Myocardial Ischemia/Reperfusion Injury
Tingting Jin, Jun Lin, Yingchao Gong, Xukun Bi, Shasha Hu, Qingbo Lv, Jiaweng Chen, Xiaoting Li, Jiaqi Chen, Wenbin Zhang, Meihui Wang, Guosheng Fu
Cells. 2021 Jun; 10(6): 1446. Published online 2021 Jun 9. doi: 10.3390/cells10061446
PMCID:
PMC8227999
AbstractArticlePDF–51M
11.
iPLA2β-mediated lipid detoxification controls p53-driven ferroptosis independent of GPX4
Delin Chen, Bo Chu, Xin Yang, Zhaoqi Liu, Ying Jin, Ning Kon, Raul Rabadan, Xuejun Jiang, Brent R. Stockwell, Wei Gu
Nat Commun. 2021; 12: 3644. Published online 2021 Jun 15. doi: 10.1038/s41467-021-23902-6
PMCID:
PMC8206155
AbstractArticlePDF–3.0M
12.
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
13.
Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)
Somesh Singh, Sarvesh Chandra Mishra, Amrin Israrahmed, Hira Lal
BMJ Case Rep. 2021; 14(3): e242586. Published online 2021 Mar 25. doi: 10.1136/bcr-2021-242586
PMCID:
PMC8006834
ArticlePDF–471K
14.
PLA2G6 guards placental trophoblasts against ferroptotic injury
Ofer Beharier, Vladimir A. Tyurin, Julie P. Goff, Jennifer Guerrero-Santoro, Kazuhiro Kajiwara, Tianjiao Chu, Yulia Y. Tyurina, Claudette M. St Croix, Callen T. Wallace, Samuel Parry, W. Tony Parks, Valerian E. Kagan, Yoel Sadovsky
Proc Natl Acad Sci U S A. 2020 Nov 3; 117(44): 27319–27328. Published online 2020 Oct 21. doi: 10.1073/pnas.2009201117
PMCID:
PMC7959495
AbstractArticlePDF–3.2M
15.
Metabolic Effects of Selective Deletion of Group VIA Phospholipase A2 from Macrophages or Pancreatic Islet Beta-Cells
John Turk, Haowei Song, Mary Wohltmann, Cheryl Frankfater, Xiaoyong Lei, Sasanka Ramanadham
Biomolecules. 2020 Oct; 10(10): 1455. Published online 2020 Oct 17. doi: 10.3390/biom10101455
PMCID:
PMC7602969
AbstractArticlePDF–4.3M
16.
婴儿神经轴索营养不良的临床特点及PLA2G6基因分析
陆 瑶, 刘 春花, 王 杨
Zhongguo Dang Dai Er Ke Za Zhi. 2019 Sep 25; 21(9): 851–855. Chinese. doi: 10.7499/j.issn.1008-8830.2019.09.002
PMCID:
PMC7390253
AbstractArticlePDF–1.7M
17.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
18.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
19.
Possible Involvement of Intracellular Calcium-Independent Phospholipase A2 in the Release of Secretory Phospholipases from Mast Cells—Increased Expression in Ileal Mast Cells of Crohn’s Disease
Ulrika Christerson, Åsa V. Keita, Martin E. Winberg, Johan D. Söderholm, Christina Gustafson-Svärd
Cells. 2019 Jul; 8(7): 672. Published online 2019 Jul 3. doi: 10.3390/cells8070672
PMCID:
PMC6678282
AbstractArticlePDF–3.7M
20.
Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes
Nancy E. Thomas, Sharon N. Edmiston, Irene Orlow, Peter A. Kanetsky, Li Luo, David C. Gibbs, Eloise A. Parrish, Honglin Hao, Klaus J. Busam, Bruce K. Armstrong, Anne Kricker, Anne E. Cust, Hoda Anton-Culver, Stephen B. Gruber, Richard P. Gallagher, Roberto Zanetti, Stefano Rosso, Lidia Sacchetto, Terence Dwyer, David W. Ollila, Colin B. Begg, Marianne Berwick, Kathleen Conway, on behalf of the GEM Study Group
J Invest Dermatol. Author manuscript; available in PMC 2019 Nov 1.
Published in final edited form as: J Invest Dermatol. 2018 Nov; 138(11): 2398–2404. Published online 2018 May 9. doi: 10.1016/j.jid.2018.04.025
PMCID:
PMC6200630
AbstractArticlePDF–111K

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