PMC Articles for MedGen (Select 863857) - PMC

Yong Zi Tan, Yazan M Abbas, Jing Ze Wu, Di Wu, Kristine A Keon, Geoffrey G Hesketh, Stephanie A Bueler, Anne-Claude Gingras, Carol V Robinson, Sergio Grinstein, John L Rubinstein

Life Sci Alliance. 2022 Nov; 5(11): e202201527. Published online 2022 Jul 6. doi: 10.26508/lsa.202201527

PMCID:: PMC9263379

Abstract Article PDF–2.7M

Select item 77539134.

MicroRNA-1911-3p targets mEAK-7 to suppress mTOR signaling in human lung cancer cells

Daniela Baccelli Mendonça, Joe Truong Nguyen, Fatima Haidar, Alexandra Lucienne Fox, Connor Ray, Halimah Amatullah, Fei Liu, Jin Koo Kim, Paul H. Krebsbach

Heliyon. 2020 Dec; 6(12): e05734. Published online 2020 Dec 19. doi: 10.1016/j.heliyon.2020.e05734

PMCID:: PMC7753913

Abstract Article PDF–1.5M

Select item 66147555.

mEAK-7 Forms an Alternative mTOR Complex with DNA-PKcs in Human Cancer

Joe Truong Nguyen, Fatima Sarah Haidar, Alexandra Lucienne Fox, Connor Ray, Daniela Baccelli Mendonça, Jin Koo Kim, Paul H. Krebsbach

iScience. 2019 Jul 26; 17: 190–207. Published online 2019 Jun 25. doi: 10.1016/j.isci.2019.06.029

PMCID:: PMC6614755

Abstract Article PDF–17M

Select item 84367686.

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

Jenna C. Carpenter, Roope Männikkö, Catherine Heffner, Jana Heneine, Marisol Sampedro‐Castañeda, Gabriele Lignani, Stephanie Schorge

Epilepsia. 2021 May; 62(5): 1256–1267. Published online 2021 Mar 18. doi: 10.1111/epi.16867

PMCID:: PMC8436768

Abstract Article PDF–1.8M

Select item 59429147.

Mammalian EAK-7 activates alternative mTOR signaling to regulate cell proliferation and migration

Joe Truong Nguyen, Connor Ray, Alexandra Lucienne Fox, Daniela Baccelli Mendonça, Jin Koo Kim, Paul H. Krebsbach

Sci Adv. 2018 May; 4(5): eaao5838. Published online 2018 May 9. doi: 10.1126/sciadv.aao5838

PMCID:: PMC5942914

Abstract Article PDF–2.8M

Select item 108975158.

Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy

Huijie Feng, Jerome Clatot, Keisuke Kaneko, Marco Flores-Mendez, Eric R. Wengert, Carly Koutcher, Emily Hoddeson, Emily Lopez, Demetrius Lee, Leroy Arias, Qiansheng Liang, Xiaohong Zhang, Ala Somarowthu, Manuel Covarrubias, Martin J. Gunthorpe, Charles H. Large, Naiara Akizu, Ethan M. Goldberg

Cell Rep Med. 2024 Feb 20; 5(2): 101389. Published online 2024 Jan 23. doi: 10.1016/j.xcrm.2023.101389

PMCID:: PMC10897515

Abstract Article PDF–7.0M

Select item 85067129.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes

Xiaoyang Li, Yongsheng Zheng, Shaoyuan Li, Umesh Nair, Chong Sun, Chongbo Zhao, Jiahong Lu, Victor Wei Zhang, Snezana Maljevic, Steven Petrou, Jie Lin

Ann Transl Med. 2021 Sep; 9(18): 1397. doi: 10.21037/atm-21-1885

PMCID:: PMC8506712

Abstract Article PDF–1.9M

Select item 335866610.

Maximum expected accuracy structural neighbors of an RNA secondary structure

Peter Clote, Feng Lou, William A Lorenz

BMC Bioinformatics. 2012; 13(Suppl 5): S6. Published online 2012 Apr 12. doi: 10.1186/1471-2105-13-S5-S6

PMCID:: PMC3358666

Abstract Article PDF–2.1M

Select item 1089760111.

Opening the K_V3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?

Maria A. Gandini, Gerald W. Zamponi

Cell Rep Med. 2024 Feb 20; 5(2): 101425. Published online 2024 Feb 20. doi: 10.1016/j.xcrm.2024.101425

PMCID:: PMC10897601

Abstract Article PDF–1.8M

Select item 1068447512.

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model

Katherine J. Donohue, Bethany Fitzsimmons, Ronald C. Bruntz, Kia H. Markussen, Lyndsay E. A. Young, Harrison A. Clarke, Peyton T. Coburn, Laiken E. Griffith, William Sanders, Jack Klier, Sara N. Burke, Andrew P. Maurer, Berge A. Minassian, Ramon C. Sun, Holly B. Kordasiewisz, Matthew S. Gentry

Neurotherapeutics. 2023 Oct; 20(6): 1808–1819. Published online 2023 Sep 12. doi: 10.1007/s13311-023-01434-9

PMCID:: PMC10684475

Abstract Article PDF–2.2M

Select item 1051920613.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, SYNaPS Study Group, Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden

Genet Med. 2022 Oct; 24(10): 2194–2203. doi: 10.1016/j.gim.2022.07.013

PMCID:: PMC10519206

Abstract Article PDF–1.3M

Select item 1041515314.

Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases

Ena Tomoda, Asuteka Nagao, Yuki Shirai, Kana Asano, Takeo Suzuki, Brendan J Battersby, Tsutomu Suzuki

Nucleic Acids Res. 2023 Aug 11; 51(14): 7563–7579. Published online 2023 Mar 17. doi: 10.1093/nar/gkad139

PMCID:: PMC10415153

Abstract Article PDF–1.9M

Select item 1010777515.

Short‐ and long‐interval intracortical inhibition in EPM1 is related to genotype

Katri Silvennoinen, Laura Säisänen, Jelena Hyppönen, Saara M. Rissanen, Pasi A. Karjalainen, Sasha D'Ambrosio, Diego Jimenez‐Jimenez, Sara Zagaglia, John C. Rothwell, Simona Balestrini, Sanjay M. Sisodiya, Petro Julkunen, Esa Mervaala, Reetta Kälviäinen

Epilepsia. 2023 Jan; 64(1): 208–217. Published online 2022 Dec 1. doi: 10.1111/epi.17466

PMCID:: PMC10107775

Abstract Article PDF–994K

Select item 985238316.

Jerome Clatot, Natalie Ginn, Gregory Costain, Ethan M. Goldberg

Ann Clin Transl Neurol. 2023 Jan; 10(1): 111–117. Published online 2022 Nov 23. doi: 10.1002/acn3.51707

PMCID:: PMC9852383

Abstract Article PDF–720K

Select item 961280117.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Silvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, Charlotte R Marchioni, Jennifer P Y Lee, Brandon H Smith, Saija Ahonen, Jun Wu, Erin E Chown, Peixiang Wang, Sara Petković, Xiaochu Zhao, Laura F DiGiovanni, Ami M Perri, Lori Israelian, Tamar R Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A Minassian

Brain. 2022 Jul; 145(7): 2361–2377. Published online 2022 Jan 27. doi: 10.1093/brain/awac017

PMCID:: PMC9612801

Abstract Article PDF–2.9M

Select item 950988918.

Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects

Justine H. Liang, Jonathan Alevy, Viktor Akhanov, Ryan Seo, Cory A. Massey, Danye Jiang, Joy Zhou, Roy V. Sillitoe, Jeffrey L. Noebels, Melanie A. Samuel

Dis Model Mech. 2022 Sep 1; 15(9): dmm049642. Published online 2022 Sep 13. doi: 10.1242/dmm.049642

PMCID:: PMC9509889

Abstract Article

Select item 931914819.

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

Hana Štufková, Hana Kolářová, Kateřina Lokvencová, Tomáš Honzík, Jiří Zeman, Hana Hansíková, Markéta Tesařová

Genes (Basel) 2022 Jul; 13(7): 1245. Published online 2022 Jul 14. doi: 10.3390/genes13071245

PMCID:: PMC9319148

Abstract Article PDF–864K

Select item 921790620.

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage

Alessandro Orsini, Daniele Ferrari, Antonella Riva, Andrea Santangelo, Angelo Macrì, Elena Freri, Laura Canafoglia, Alfredo D’Aniello, Giancarlo Di Gennaro, Gabriele Massimetti, Carlo Minetti, Federico Zara, Roberto Michelucci, Anupreet Tumber, Ajoy Vincent, Berge Arakel Minassian, Pasquale Striano

J Neurol. 2022; 269(7): 3597–3604. Published online 2022 Feb 20. doi: 10.1007/s00415-022-10974-7

PMCID:: PMC9217906

Abstract Article PDF–753K

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