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Select item 110592061.

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 109373932.

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 109243743.

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 106653904.

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 105086475.

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 104489546.

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 103213977.

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 99909858.

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 99807119.

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 976294510.

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 930484111.

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 917776512.

CORTICAL FEATURES IN CHILD AND ADOLESCENT CARRIERS OF MUTANT HUNTINGTIN (MHTT)

Erin E. Reasoner, Ellen van der Plas, Douglas R. Langbehn, Amy L. Conrad, Timothy R. Koscik, Eric A. Epping, Vincent A. Magnotta, Peggy C. Nopoulos

J Huntingtons Dis. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: J Huntingtons Dis. 2022; 11(2): 173–178. doi: 10.3233/JHD-210512

PMCID:: PMC9177765

Abstract Article PDF–374K

Select item 876426913.

Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease

Douglas R. Langbehn, for the Registry Investigators of the European Huntington Disease Network

Am J Hum Genet. 2022 Jan 6; 109(1): 172–179. Published online 2021 Dec 22. doi: 10.1016/j.ajhg.2021.12.002

PMCID:: PMC8764269

Abstract Article PDF–8.3M

Select item 871351714.

Oligonucleotides Targeting DNA Repeats Downregulate Huntingtin Gene Expression in Huntington's Patient-Derived Neural Model System

Tea Umek, Thomas Olsson, Olof Gissberg, Osama Saher, Eman M. Zaghloul, Karin E. Lundin, Jesper Wengel, Eric Hanse, Henrik Zetterberg, Dzeneta Vizlin-Hodzic, C. I. Edvard Smith, Rula Zain

Nucleic Acid Ther. December 2021; 31(6): 443–456. Published online 2021 Dec 10. doi: 10.1089/nat.2021.0021

PMCID:: PMC8713517

Abstract Article PDF–1.5M

Select item 869801115.

Site‐Specific Phosphorylation of Huntingtin Exon 1 Recombinant Proteins Enabled by the Discovery of Novel Kinases

Anass Chiki, Jonathan Ricci, Ramanath Hegde, Luciano A. Abriata, Andreas Reif, Driss Boudeffa, Prof. Hilal A. Lashuel

Chembiochem. 2021 Jan 5; 22(1): 217–231. Published online 2020 Oct 13. doi: 10.1002/cbic.202000508

PMCID:: PMC8698011

Abstract Article PDF–7.3M

Select item 865498016.

Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon 1

Rachel J. Harding, Justin C. Deme, Johannes F. Hevler, Sem Tamara, Alexander Lemak, Jeffrey P. Cantle, Magdalena M. Szewczyk, Nola Begeja, Siobhan Goss, Xiaobing Zuo, Peter Loppnau, Alma Seitova, Ashley Hutchinson, Lixin Fan, Ray Truant, Matthieu Schapira, Jeffrey B. Carroll, Albert J. R. Heck, Susan M. Lea, Cheryl H. Arrowsmith

Commun Biol. 2021; 4: 1374. Published online 2021 Dec 8. doi: 10.1038/s42003-021-02895-4

PMCID:: PMC8654980

Abstract Article PDF–3.8M

Select item 864045517.

N-alpha-acetylation of Huntingtin protein increases its propensity to aggregate

Leah Gottlieb, Lin Guo, James Shorter, Ronen Marmorstein

J Biol Chem. 2021 Dec; 297(6): 101363. Published online 2021 Oct 31. doi: 10.1016/j.jbc.2021.101363

PMCID:: PMC8640455

Abstract Article PDF–1.6M

Select item 861780118.

Non-Cell Autonomous and Epigenetic Mechanisms of Huntington’s Disease

Chaebin Kim, Ali Yousefian-Jazi, Seung-Hye Choi, Inyoung Chang, Junghee Lee, Hoon Ryu

Int J Mol Sci. 2021 Nov; 22(22): 12499. Published online 2021 Nov 19. doi: 10.3390/ijms222212499

PMCID:: PMC8617801

Abstract Article PDF–18M

Select item 858998019.

Nuclear and cytoplasmic huntingtin inclusions exhibit distinct biochemical composition, interactome and ultrastructural properties

Nathan Riguet, Anne-Laure Mahul-Mellier, Niran Maharjan, Johannes Burtscher, Marie Croisier, Graham Knott, Janna Hastings, Alice Patin, Veronika Reiterer, Hesso Farhan, Sergey Nasarov, Hilal A. Lashuel

Nat Commun. 2021; 12: 6579. Published online 2021 Nov 12. doi: 10.1038/s41467-021-26684-z