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Select item 114899931.

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

Amina Kurtovic-Kozaric, Moriel Singer-Berk, Jordan Wood, Emily Evangelista, Leena Panwala, Amanda Hope, Stefanie M. Heinrich, Samantha Baxter, Mark J. Kiel

Orphanet J Rare Dis. 2024; 19: 388. Published online 2024 Oct 18. doi: 10.1186/s13023-024-03275-x

PMCID:: PMC11489993

Abstract Article PDF–1.2M

Select item 111038722.

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Ruohao Wu, Xiaojuan Li, Zhe Meng, Pinggan Li, Zhanwen He, Liyang Liang

Orphanet J Rare Dis. 2024; 19: 205. Published online 2024 May 19. doi: 10.1186/s13023-024-03214-w

PMCID:: PMC11103872

Abstract Article PDF–2.9M

Select item 108450713.

Mieap forms membrane-less organelles involved in cardiolipin metabolism

Naoki Ikari, Katsuko Honjo, Yoko Sagami, Yasuyuki Nakamura, Hirofumi Arakawa

iScience. 2024 Feb 16; 27(2): 108916. Published online 2024 Jan 17. doi: 10.1016/j.isci.2024.108916

PMCID:: PMC10845071

Abstract Article PDF–8.3M

Select item 103209404.

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

Abstract Article PDF–1.5M

Select item 102702715.

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

Abstract Article PDF–4.8M

Select item 102374226.

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 101746697.

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

Abstract Article PDF–1.9M

Select item 92626148.

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

Abstract Article PDF–3.6M

Select item 90166269.

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

Abstract Article PDF–279K

Select item 900093510.

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

Abstract Article PDF–864K

Select item 890605111.

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

Abstract Article PDF–406K

Select item 823560112.

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

Abstract Article PDF–695K

Select item 822799913.

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

Abstract Article PDF–51M

Select item 820615514.

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

Abstract Article PDF–3.0M

Select item 816503015.

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 800683416.

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

Article PDF–471K

Select item 795949517.

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

Abstract Article PDF–3.2M

Select item 760296918.

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

Abstract Article PDF–4.3M

Select item 739025319.

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

Abstract Article PDF–1.7M

Select item 732206720.

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

Abstract Article PDF–2.7M

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