U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from GEO Profiles

Items: 1 to 20 of 415

1.
Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure
Pawel Lisowski, Selene Lickfett, Agnieszka Rybak-Wolf, Carmen Menacho, Stephanie Le, Tancredi Massimo Pentimalli, Sofia Notopoulou, Werner Dykstra, Daniel Oehler, Sandra López-Calcerrada, Barbara Mlody, Maximilian Otto, Haijia Wu, Yasmin Richter, Philipp Roth, Ruchika Anand, Linda A. M. Kulka, David Meierhofer, Petar Glazar, Ivano Legnini, Narasimha Swamy Telugu, Tobias Hahn, Nancy Neuendorf, Duncan C. Miller, Annett Böddrich, Amin Polzin, Ertan Mayatepek, Sebastian Diecke, Heidi Olzscha, Janine Kirstein, Cristina Ugalde, Spyros Petrakis, Sidney Cambridge, Nikolaus Rajewsky, Ralf Kühn, Erich E. Wanker, Josef Priller, Jakob J. Metzger, Alessandro Prigione
Nat Commun. 2024; 15: 7027. Published online 2024 Aug 22. doi: 10.1038/s41467-024-51216-w
PMCID:
PMC11341898
AbstractArticlePDF–9.0M
2.
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A. Cumming, Spanish HD Collaborative Group, Darren G. Monckton, Maria A. Ramos-Arroyo
Eur J Hum Genet. 2024 Jul; 32(7): 770–778. Published online 2024 Mar 4. doi: 10.1038/s41431-024-01546-6
PMCID:
PMC11220145
AbstractArticlePDF–1.0M
3.
Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
Cell. Author manuscript; available in PMC 2024 Oct 26.
Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
PMCID:
PMC11209935
AbstractArticlePDF–3.0M
4.
Nucleation of Huntingtin Aggregation Proceeds via Conformational Conversion of Pre‐Formed, Sparsely‐Populated Tetramers
Francesco Torricella, Vitali Tugarinov, G. Marius Clore
Adv Sci (Weinh) 2024 Jun; 11(24): 2309217. Published online 2024 Mar 12. doi: 10.1002/advs.202309217
PMCID:
PMC11199967
AbstractArticlePDF–678K
5.
Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights
Sergio Pérez‐Oliveira, Juan Castilla‐Silgado, Cèlia Painous, Iban Aldecoa, Manuel Menéndez‐González, Marta Blázquez‐Estrada, Daniela Corte, Cristina Tomás‐Zapico, Yaroslau Compta, Esteban Muñoz, Albert Lladó, Mircea Balasa, Gemma Aragonès, Pablo García‐González, Maitée Rosende‐Roca, Mercè Boada, Agustín Ruíz, Pau Pastor, Beatriz De la Casa‐Fages, Alberto Rabano, Raquel Sánchez‐Valle, Laura Molina‐Porcel, Victoria Álvarez
Brain Pathol. 2024 Jul; 34(4): e13250. Published online 2024 Feb 28. doi: 10.1111/bpa.13250
PMCID:
PMC11189778
AbstractArticlePDF–1.4M
6.
Downregulation of NF-κB signaling by mutant huntingtin proteins induces oxidative stress and cell death
Sami Reijonen, Jyrki P. Kukkonen, Alise Hyrskyluoto, Jenny Kivinen, Minna Kairisalo, Nobuyuki Takei, Dan Lindholm, Laura Korhonen
Cell Mol Life Sci. 2010 Jun; 67(11): 1929–1941. Published online 2010 Mar 17. doi: 10.1007/s00018-010-0305-y
PMCID:
PMC11115952
AbstractArticlePDF–748K
7.
Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions
Morgane Louessard, Michel Cailleret, Margot Jarrige, Julie Bigarreau, Sophie Lenoir, Noëlle Dufour, Maria Rey, Frédéric Saudou, Nicole Deglon, Anselme L. Perrier
J Huntingtons Dis. 2024; 13(1): 41–53. Prepublished online 2024 Feb 24. Published online 2024 Mar 29. doi: 10.3233/JHD-231509
PMCID:
PMC11091579
AbstractArticlePDF–668K
8.
The Polyglutamine Expansion at the N-Terminal of Huntingtin Protein Modulates the Dynamic Configuration and Phosphorylation of the C-Terminal HEAT Domain
Taeyang Jung, Baehyun Shin, Giorgio Tamo, Hyeongju Kim, Ravi Vijayvargia, Alexander Leitner, Maria J. Marcaida, Juan Astorga-Wells, Roy Jung, Ruedi Aebersold, Matteo Dal Peraro, Hans Hebert, Ihn Sik Seong, Ji-Joon Song
Structure. Author manuscript; available in PMC 2024 Apr 29.
Published in final edited form as: Structure. 2020 Sep 1; 28(9): 1035–1050.e8. Published online 2020 Jul 14. doi: 10.1016/j.str.2020.06.008
PMCID:
PMC11059206
AbstractArticlePDF–3.2M
9.
Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum
Kert Mätlik, Matthew Baffuto, Laura Kus, Amit Laxmikant Deshmukh, David A. Davis, Matthew R. Paul, Thomas S. Carroll, Marie-Christine Caron, Jean-Yves Masson, Christopher E. Pearson, Nathaniel Heintz
Nat Genet. 2024; 56(3): 383–394. Published online 2024 Jan 30. doi: 10.1038/s41588-024-01653-6
PMCID:
PMC10937393
AbstractArticlePDF–8.4M
10.
Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues
Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P. Bates, G. Bernhard Landwehrmeyer, Andreas Neueder
Mol Med. 2024; 30: 36. Published online 2024 Mar 8. doi: 10.1186/s10020-024-00801-2
Correction in:
Mol Med. 2024; 30: 49.
PMCID:
PMC10924374
AbstractArticlePDF–1.9M
11.
Mutant huntingtin confers cell-autonomous phenotypes on Huntington’s disease iPSC-derived microglia
Nina Stöberl, Jasmine Donaldson, Caroline S. Binda, Branduff McAllister, Hazel Hall-Roberts, Lesley Jones, Thomas H. Massey, Nicholas D. Allen
Sci Rep. 2023; 13: 20477. Published online 2023 Nov 22. doi: 10.1038/s41598-023-46852-z
PMCID:
PMC10665390
AbstractArticlePDF–2.0M
12.
Interaction between huntingtin exon 1 and HEAT repeat structure probed by chimeric model proteins
Hong Zhang, Si Wu, Laura S. Itzhaki, Sarah Perrett
Protein Sci. 2023 Dec; 32(12): e4810. Published online 2023 Dec 1. doi: 10.1002/pro.4810
PMCID:
PMC10659953
AbstractArticlePDF–3.4M
13.
Association of CAG Repeat Length in the Huntington Gene With Cognitive Performance in Young Adults
Jordan L. Schultz, Carsten Saft, Peggy C. Nopoulos
Neurology. 2021 May 11; 96(19): e2407–e2413. doi: 10.1212/WNL.0000000000011823
PMCID:
PMC10508647
AbstractArticlePDF–551K
14.
Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index
Tariq O Faquih, N Ahmad Aziz, Sarah L Gardiner, Ruifang Li-Gao, Renée de Mutsert, Yuri Milaneschi, Stella Trompet, J Wouter Jukema, Frits R Rosendaal, Astrid van Hylckama Vlieg, Ko Willems van Dijk, Dennis O Mook-Kanamori
Hum Mol Genet. 2023 May 15; 32(10): 1741–1752. Published online 2023 Jan 30. doi: 10.1093/hmg/ddad020
PMCID:
PMC10448954
AbstractArticlePDF–1.3M
15.
The HSPB1-p62/SQSTM1 functional complex regulates the unconventional secretion and transcellular spreading of the HD-associated mutant huntingtin protein
R Bonavita, G Scerra, R Di Martino, S Nuzzo, E Polishchuk, M Di Gennaro, S V Williams, M G Caporaso, C Caiazza, R Polishchuk, M D’Agostino, A Fleming, M Renna
Hum Mol Genet. 2023 Jul 15; 32(14): 2269–2291. Published online 2023 Mar 27. doi: 10.1093/hmg/ddad047
PMCID:
PMC10321397
AbstractArticlePDF–2.5M
16.
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
17.
SERBP1 Promotes Stress Granule Clearance by Regulating 26S Proteasome Activity and G3BP1 Ubiquitination and Protects Male Germ Cells from Thermostimuli Damage
Fengli Wang, Lingjuan Wang, Shiming Gan, Shenglei Feng, Sijin Ouyang, Xiaoli Wang, Shuiqiao Yuan
Research (Wash D C) 2023; 6: 0091. Published online 2023 Apr 12. doi: 10.34133/research.0091
PMCID:
PMC10202183
AbstractArticlePDF–18M
18.
Praja1 RING‐finger E3 ubiquitin ligase is a common suppressor of neurodegenerative disease‐associated protein aggregation
Kazuhiko Watabe, Motoko Niida‐Kawaguchi, Mari Tada, Yoichiro Kato, Makiko Murata, Kunikazu Tanji, Koichi Wakabayashi, Mitsunori Yamada, Akiyoshi Kakita, Noriyuki Shibata
Neuropathology. 2022 Dec; 42(6): 488–504. Published online 2022 Jun 14. doi: 10.1111/neup.12840
PMCID:
PMC10084124
AbstractArticlePDF–4.8M
19.
Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease
Ainara Ruiz de Sabando, Edurne Urrutia Lafuente, Arkaitz Galbete, Marc Ciosi, Fermín García Amigot, Virginia García Solaesa, Spanish HD Collaborative group , Darren G Monckton, Maria A Ramos-Arroyo
Hum Mol Genet. 2023 Mar 15; 32(6): 897–906. Published online 2022 Sep 20. doi: 10.1093/hmg/ddac224
PMCID:
PMC9990985
AbstractArticlePDF–859K
20.
Prevalence of Huntington’s disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder
Eliana Marisa Ramos, Tammy Gillis, Jayalakshmi S Mysore, Jong-Min Lee, Isabel Alonso, James F Gusella, Jordan W Smoller, Pamela Sklar, Marcy E MacDonald, Roy H Perlis
Bipolar Disord. Author manuscript; available in PMC 2023 Mar 2.
Published in final edited form as: Bipolar Disord. 2015 Jun; 17(4): 403–408. Published online 2015 Feb 26. doi: 10.1111/bdi.12289
PMCID:
PMC9980711
AbstractArticlePDF–293K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center