HD HTT

Ontology Lookup Service (OLS)

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti

American journal of human genetics · 2017-11-02

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.

Zöe,Powis, Jonathon,Lutz, Khalida,Liaquat, Jyes A,Querubin, Sat Dev,Batish

American journal of medical genetics. Part A · 2024-10-23

Huntington's disease: a clinical review.

Raymund A C,Roos

Orphanet journal of rare diseases · 2010-12-20

Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure.

Magdalena,Vater, Nicolas,Rost, Gertrud,Eckstein, Susann,Sauer, Alina,Tontsch, Angelika,Erhardt, Susanne,Lucae, Tanja,Brückl, Thomas,Klopstock, Philipp G,Sämann, Elisabeth B,Binder

European journal of human genetics : EJHG · 2024-11-21

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson

Science advances · 2022-03-04

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Audrey E,Hendricks, Jeanne C,Latourelle, Kathryn L,Lunetta, L Adrienne,Cupples, Vanessa,Wheeler, Marcy E,MacDonald, James F,Gusella, Richard H,Myers

American journal of medical genetics. Part A · 2009-07-01

Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies.

Maria,Jimenez-Sanchez, Floriana,Licitra, Benjamin R,Underwood, David C,Rubinsztein

Cold Spring Harbor perspectives in medicine · 2017-07-05

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Cell · 1993-03-26

Pyramidal signs in Huntington's disease: An early clinical indicator associated with proximity to disease onset.

Xiao-Yan,Li, Yu-Feng,Bao, Chen-Chang,Hu, Yi,Dong, Zhi-Ying,Wu

Med (New York, N.Y.) · 2026-03-30

Inhibition of the NLRP3 Inflammasome With MCC950 Improves Gut Health in Huntington's Disease Mice.

Sujan Kumar,Sarkar, Millicent N,Ekwudo, Da,Lu, Bethany,Masson, Pamudika,Kiridena, Nicholas,van de Garde, Thibault,Renoir, James E,Vince, Veerasikku Gopal,Deepagan, Anthony J,Hannan, Carolina,Gubert

Journal of neurochemistry · 2026-04-01

Aberrant expression of the MID1 protein in neurons of Huntington's disease brain.

Adriana,Geraci, Annika,Reisbitzer, Janina,Gerhard, Sybille,Krauß

Frontiers in genetics · 2026-03-11

3D-AI mouse behavior analysis system has the capability to detect abnormalities in R6/1 model mice with Huntington's disease during the pre-symptomatic phase.

Shida,Zhou, Xiaoyu,Wang, Yu Tian,Wang

Frontiers in psychiatry · 2026-03-10

Huntingtin (HTT) interactome in regulation of DNA repair/remodeling and RNA processing pathways.

Tamara,Ratovitski, Chloe D,Holland, Robert N,O'Meally, Alexey V,Shevelkin, Siddhi V,Kamath, Tianze,Shi, Matthew J,Rodriguez, Robert N,Cole, Mali,Jiang, Christopher A,Ross

Life science alliance · 2026-03-18

Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington's disease deficits in BAC226Q mice.

Yuanyi,Dai, Zuliayeti,Abudujielili, Yunyi,Ding, Wanping,Huang, Jianhang,Yin, Liqiong,Ou, Jiazhi,Hu, Sushuang,Zheng, Chenjian,Li

Science advances · 2026-03-18

Lowering the

Aikaterini Smaragdi,Papadopoulou, Julia,Alterman, Christian,Landles, Edward J,Smith, Faith,Conroy, Jemima,Phillips, Maria,Canibano-Pico, Iulia M,Nita, Georgina F,Osborne, Arzo,Iqbal, Sarah G,Aldous, Marie K,Bondulich, Casandra,Gomez-Paredes, Kirupa,Sathasivam, Daniel,O'Reilly, Dimas,Echeverria, Konstantin,Bobkov, Jonathan R,Greene, Neil,Aronin, Anastasia,Khvorova, Gillian P,Bates

Science translational medicine · 2026-03-18

Discovery and Optimization of Thienopyrazine RNA-Splicing Modulators for the Treatment of Huntington's Disease.

Chaofan,Xu, Neeta,Abraham, Nupur,Bansal, Philippe N,Bolduc, Patrick,Cullen, Thomas M,Carlile, Yirui,Chen, Colin K,Choi, Rachelle,Driscoll, Eric,Stefan, Christina M,Gallo, Zhen,Gao, Catherine L,Guardado, Guilherme,Guimaraes, James,Harvey, Sarah,Huff, Dann,Huh, Jessica,Hurt, Melissa M,Kemp, Kwang Soo,Lee, Joon,Lee, Mukesh,Lulla, Soumya,Negi, Marta,Nevalainen, Emily A,Peterson, Thomas J,Purgett, Joseph C,Santoro, Daniel R,Smith, Andreas,Weihofen, Zain,Yousaf, Magnus,Pfaffenbach

Journal of medicinal chemistry · 2026-03-17

High-affinity, structure-validated and selective macrocyclic peptide tools for chemical biology studies of Huntingtin.

Rebeka,Fanti, Esther,Wolf, Tatsuya,Ikenoue, Justin C,Deme, Swati,Balakrishnan, Brandon A,Keith, Matthew G,Alteen, Renu,Chandrasekaran, Manisha,Yadav, Ritika,Bhajiawala, Suzanne,Ackloo, Jia,Feng, Mahmoud A,Pouladi, Aled M,Edwards, Derek J,Wilson, Susan M,Lea, Hiroaki,Suga, Rachel J,Harding

Proceedings of the National Academy of Sciences of the United States of America · 2026-03-16