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Items: 1 to 20 of 384

1.
Longitudinal changes in network homogeneity in presymptomatic C9orf72 mutation carriers
Rebecca E. Waugh, Laura E. Danielian, Rachel F. Smallwood Shoukry, Mary Kay Floeter
Neurobiol Aging. Author manuscript; available in PMC 2024 Sep 27.
Published in final edited form as: Neurobiol Aging. 2021 Mar; 99: 1–10. Published online 2020 Dec 8. doi: 10.1016/j.neurobiolaging.2020.11.014
PMCID:
PMC11428095
AbstractArticlePDF–816K
2.
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids
Astrid T. van der Geest, Channa E. Jakobs, Tijana Ljubikj, Christiaan F. M. Huffels, Marta Cañizares Luna, Renata Vieira de Sá, Youri Adolfs, Marina de Wit, Daan H. Rutten, Marthe Kaal, Maria M. Zwartkruis, Mireia Carcolé, Ewout J. N. Groen, Elly M. Hol, Onur Basak, Adrian M. Isaacs, Henk-Jan Westeneng, Leonard H. van den Berg, Jan H. Veldink, Domino K. Schlegel, R. Jeroen Pasterkamp
Acta Neuropathol Commun. 2024; 12: 152. Published online 2024 Sep 18. doi: 10.1186/s40478-024-01857-1
PMCID:
PMC11409520
AbstractArticlePDF–6.7M
3.
Globally reduced N6-methyladenosine (m6A) in C9ORF72-ALS/FTD dysregulates RNA metabolism and contributes to neurodegeneration
Yini Li, Xiaoyang Dou, Jun Liu, Yu Xiao, Zhe Zhang, Lindsey Hayes, Rong Wu, Xiujuan Fu, Yingzhi Ye, Bing Yang, Lyle W. Ostrow, Chuan He, Shuying Sun
Nat Neurosci. Author manuscript; available in PMC 2024 Aug 29.
Published in final edited form as: Nat Neurosci. 2023 Aug; 26(8): 1328–1338. Published online 2023 Jun 26. doi: 10.1038/s41593-023-01374-9
PMCID:
PMC11361766
AbstractArticlePDF–4.1M
4.
Toxic gain-of-function mechanisms in C9orf72 ALS-FTD neurons drive autophagy and lysosome dysfunction
Jimmy Beckers, Philip Van Damme
Autophagy. 2024; 20(9): 2102–2104. Published online 2024 Apr 14. doi: 10.1080/15548627.2024.2340415
PMCID:
PMC11346543
AbstractArticlePDF–574K
5.
Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons
Jakub Scaber, Iona Thomas-Wright, Alex J. Clark, Yinyan Xu, Björn F. Vahsen, Mireia Carcolé, Ruxandra Dafinca, Lucy Farrimond, Adrian M. Isaacs, David L. Bennett, Kevin Talbot
Stem Cell Reports. 2024 Jul 9; 19(7): 957–972. Published online 2024 Jun 13. doi: 10.1016/j.stemcr.2024.05.008
PMCID:
PMC11252479
AbstractArticlePDF–6.3M
6.
Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer’s Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions
Antonio Longobardi, Sonia Bellini, Roland Nicsanu, Andrea Pilotto, Andrea Geviti, Alessandro Facconi, Chiara Tolassi, Ilenia Libri, Claudia Saraceno, Silvia Fostinelli, Barbara Borroni, Alessandro Padovani, Giuliano Binetti, Roberta Ghidoni
Int J Mol Sci. 2024 Jul; 25(13): 7457. Published online 2024 Jul 7. doi: 10.3390/ijms25137457
PMCID:
PMC11242823
AbstractArticlePDF–1.0M
7.
Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers
Anna Nigri, Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean Paul Medina Carrion, Sara Palermo, Laura Lequio, Federica Denegri, Federica Agosta, Edoardo Gioele Spinelli, Massimo Filippi, Marina Grisoli, Maria Consuelo Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Adriano Chiò, Maria Grazia Bruzzone, Cristina Moglia
Eur J Neurol. 2024 Jun; 31(6): e16266. Published online 2024 Mar 12. doi: 10.1111/ene.16266
PMCID:
PMC11235848
AbstractArticlePDF–2.2M
8.
Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand
Leszek Błaszczyk, Marcin Ryczek, Bimolendu Das, Martyna Mateja-Pluta, Magdalena Bejger, Joanna Śliwiak, Kazuhiko Nakatani, Agnieszka Kiliszek
Nucleic Acids Res. 2024 Jun 24; 52(11): 6707–6717. Published online 2024 May 13. doi: 10.1093/nar/gkae376
PMCID:
PMC11194091
AbstractArticlePDF–1.1M
9.
Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model
Nada Kojak, Junko Kuno, Kristina E Fittipaldi, Ambereen Khan, David Wenger, Michael Glasser, Roberto A Donnianni, Yajun Tang, Jade Zhang, Katie Huling, Roxanne Ally, Alejandro O Mujica, Terrence Turner, Gina Magardino, Pei Yi Huang, Sze Yen Kerk, Gustavo Droguett, Marine Prissette, Jose Rojas, Teodoro Gomez, Anthony Gagliardi, Charleen Hunt, Jeremy S Rabinowitz, Guochun Gong, William Poueymirou, Eric Chiao, Brian Zambrowicz, Chia-Jen Siao, Daisuke Kajimura
Nucleic Acids Res. 2024 Jun 10; 52(10): 5732–5755. Published online 2024 Apr 10. doi: 10.1093/nar/gkae250
PMCID:
PMC11162798
AbstractArticlePDF–4.0M
10.
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A. Finch, Matthew C. Baker, Cyril Pottier, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Björn Oskarsson, Sandro Da Mesquita, Leonard Petrucelli, Tania F. Gendron, Dennis W. Dickson, Rosa Rademakers, Marka van Blitterswijk
Acta Neuropathol. 2024; 147(1): 73. Published online 2024 Apr 19. doi: 10.1007/s00401-024-02720-2
PMCID:
PMC11031479
AbstractArticlePDF–3.8M
11.
Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS)
Mariam Kekenadze, Clarissa Rocca, Valentina Turchetti, Sara Nagy, Nana Kvirkvelia, Shorena Vashadze, Eka Kvaratskhelia, Maia Beridze, Rauan Kaiyrzhanov, Henry Houlden
Version 2. F1000Res. 2023; 12: 1113. Published online 2024 Mar 6. doi: 10.12688/f1000research.138436.2
PMCID:
PMC10924727
AbstractArticlePDF–889K
12.
ALS’ Perfect Storm: C9orf72-Associated Toxic Dipeptide Repeats as Potential Multipotent Disruptors of Protein Homeostasis
Paulien H. Smeele, Giuliana Cesare, Thomas Vaccari
Cells. 2024 Jan; 13(2): 178. Published online 2024 Jan 17. doi: 10.3390/cells13020178
PMCID:
PMC10813877
AbstractArticlePDF–1.5M
13.
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations
Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll
BMC Med Genomics. 2024; 17: 30. Published online 2024 Jan 22. doi: 10.1186/s12920-024-01807-9
PMCID:
PMC10804878
AbstractArticlePDF–884K
14.
Reconstitution of C9orf72 GGGGCC repeat-associated non-AUG translation with purified human translation factors
Hayato Ito, Kodai Machida, Mayuka Hasumi, Morio Ueyama, Yoshitaka Nagai, Hiroaki Imataka, Hideki Taguchi
Sci Rep. 2023; 13: 22826. Published online 2023 Dec 20. doi: 10.1038/s41598-023-50188-z
PMCID:
PMC10739749
AbstractArticlePDF–2.1M
15.
ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis
Dan Tang, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li, Yichang Wang, Ying Lu, Jiaming Liu, Hang Liu, Chengbing Tang, Shijian Feng, Xiuju Dong, Liangting Xu, Yike Yin, Shangyu Dang, Xiawei Wei, Haiyan Ren, Biao Dong, Lunzhi Dai, Wei Cheng, Meihua Wan, Zhonghan Li, Jing Chen, Hong Li, Eryan Kong, Kunjie Wang, Kefeng Lu, Shiqian Qi
Proc Natl Acad Sci U S A. 2023 Dec 12; 120(50): e2220496120. Published online 2023 Dec 8. doi: 10.1073/pnas.2220496120
PMCID:
PMC10723147
AbstractArticlePDF–8.3M
16.
The ALS/FTD-related C9orf72 hexanucleotide repeat expansion forms RNA condensates through multimolecular G-quadruplexes
Federica Raguseo, Yiran Wang, Jessica Li, Marija Petrić Howe, Rubika Balendra, Anouk Huyghebaert, Devkee M. Vadukul, Diana A. Tanase, Thomas E. Maher, Layla Malouf, Roger Rubio-Sánchez, Francesco A. Aprile, Yuval Elani, Rickie Patani, Lorenzo Di Michele, Marco Di Antonio
Nat Commun. 2023; 14: 8272. Published online 2023 Dec 13. doi: 10.1038/s41467-023-43872-1
PMCID:
PMC10719400
AbstractArticlePDF–8.0M
17.
Pearls & Oy-sters: Familial Verbal Auditory Agnosia Due to C9orf72 Repeat Expansion
Yoon Seob Kim, Young-Eun Kim, Yun-Hoon Choung, Hwajung Kim, Hee Jin Kim, Na-Yeon Jung, Sun Min Lee, Eun-Joo Kim, So Young Moon
Neurology. 2023 Nov 14; 101(20): e2046–e2050. doi: 10.1212/WNL.0000000000207832
PMCID:
PMC10662987
AbstractArticlePDF–319K
18.
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
Robert S. Kiss, Jarred Chicoine, Youssef Khalil, Robert Sladek, He Chen, Alessandro Pisaturo, Cyril Martin, Jessica D. Dale, Tegan A. Brudenell, Archith Kamath, Jeffrey Kyei-Boahen, Anouar Hafiane, Girija Daliah, Célia Alecki, Tayah S. Hopes, Martin Heier, Irene A. Aligianis, Jean-Jacques Lebrun, Julie Aspden, Emanuele Paci, Anja Kerksiek, Dieter Lütjohann, Peter Clayton, Jimi C. Wills, Alex von Kriegsheim, Tommy Nilsson, Eamonn Sheridan, Mark T. Handley
J Biol Chem. 2023 Nov; 299(11): 105295. Published online 2023 Sep 28. doi: 10.1016/j.jbc.2023.105295
PMCID:
PMC10641524
AbstractArticlePDF–3.8M
19.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876
AbstractArticlePDF–3.7M
20.
Incorporating New Diagnostic Schemas, Genetics, and Proteinopathy into the Evaluation of Frontotemporal Degeneration
Tiffany W. Chow, Ammar A. Alobaidy
Continuum (Minneap Minn) 2013 Apr; 19(2 Dementia): 438–456. Published online 2013 Apr. doi: 10.1212/01.CON.0000429173.35439.9c
PMCID:
PMC10563897
AbstractArticlePDF–3.7M

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