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Select item 112201451.

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

Abstract Article PDF–1.0M

Select item 111159522.

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

Abstract Article PDF–748K

Select item 110915793.

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

Abstract Article PDF–668K

Select item 110592064.

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

Abstract Article PDF–3.2M

Select item 109373935.

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

Abstract Article PDF–8.4M

Select item 109243746.

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

Abstract Article PDF–1.9M

Select item 106653907.

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

Abstract Article PDF–2.0M

Select item 105086478.

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

Abstract Article PDF–551K

Select item 104489549.

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

Abstract Article PDF–1.3M

Select item 1032139710.

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

Abstract Article PDF–2.5M

Select item 1023742211.

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 1008412412.

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

Abstract Article PDF–4.8M

Select item 999098513.

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

Abstract Article PDF–859K

Select item 998071114.

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

Abstract Article PDF–293K

Select item 976294515.

Alternative processing of human HTT mRNA with implications for Huntington’s disease therapeutics

Sandra Fienko, Christian Landles, Kirupa Sathasivam, Sean J McAteer, Rebecca E Milton, Georgina F Osborne, Edward J Smith, Samuel T Jones, Marie K Bondulich, Emily C E Danby, Jemima Phillips, Bridget A Taxy, Holly B Kordasiewicz, Gillian P Bates

Brain. 2022 Dec; 145(12): 4409–4424. Published online 2022 Jul 6. doi: 10.1093/brain/awac241

PMCID:: PMC9762945

Abstract Article PDF–1.8M

Select item 948412716.

Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease

Manuel Seefelder, Fabrice A.C. Klein, Bernhard Landwehrmeyer, Rubén Fernández-Busnadiego, Stefan Kochanek

J Huntingtons Dis. 2022; 11(3): 227–242. Prepublished online 2022 Jul 16. Published online 2022 Aug 30. doi: 10.3233/JHD-220543

PMCID:: PMC9484127

Abstract Article PDF–731K

Select item 930484117.

Behavioral features in child and adolescent huntingtin gene‐mutation carriers

Erin E. Reasoner, Ellen van der Plas, Hend M. Al‐Kaylani, Douglas R. Langbehn, Amy L. Conrad, Jordan L. Schultz, Eric A. Epping, Vincent A. Magnotta, Peggy C. Nopoulos

Brain Behav. 2022 Jul; 12(7): e2630. Published online 2022 May 23. doi: 10.1002/brb3.2630

PMCID:: PMC9304841

Abstract Article PDF–747K

Select item 927928518.

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery

Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili

Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z

PMCID:: PMC9279285

Abstract Article PDF–2.5M

Select item 926261419.

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 923162320.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

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