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

Huntington Disease

Nicholas S.,Caron, Galen EB,Wright, Michael R.,Hayden

GeneReviews® · 1993-01-01

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

High-Affinity, Structure-Validated and Selective Macrocyclic Peptide Tools for Chemical Biology Studies of Huntingtin.

Esther,Wolf, Rebeka,Fanti, 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,Wilson, Susan M,Lea, Hiroaki,Suga, Rachel J,Harding

bioRxiv : the preprint server for biology · 2025-08-06

Efficient expansion of tumor-infiltrating lymphocytes from gynecologic cancer.

Tetsuya,Matsukawa, Tsunenori,Ouchida, Taeko,Hayakawa, Toshiaki,Yoshikawa, Yusuke,Ito, Hitomi,Kasuya, Chisato,Umehara, Satoshi,Inoue, Tatsuyuki,Chiyoda, Hiroshi,Nishio, Wataru,Yamagami, Waki,Hosoda, Shiro,Suzuki, Yuki,Kagoya

Journal of immunology (Baltimore, Md. : 1950) · 2025-09-26

Interplay Between Sex and Cytosine-Adenine-Guanine-Age Product Score in Huntington's Disease: Clinical and Neuroimaging Perspectives.

Jingwen,Yao, Grayson,Feng, Guowen,Shao, Zexi,Wang, Adys,Mendizabal, Donatello,Telesca, Kaiying,Fang, Lola,Ibragimova, Juwairia,Shoaib, Melanie A,Morrison, Janine M,Lupo

Movement disorders : official journal of the Movement Disorder Society · 2025-09-23

Progressively reduced cerebral oxygen metabolism and elevated plasma NfL levels in the zQ175DN mouse model of Huntington's disease.

Qian,Wu, Minmin,Yao, Hongshuai,Liu, Aaron,Kakazu, Yuxiao,Ouyang, Chang,Liu, Ruoxuan,Li, Fan,Yang, Anqi,Wang, Sharmane,Surasinghe, Damien,Gerochi, Barbara,Baldo, Stefanie,Jahn, Haiying,Tang, Hanzhang,Lu, Zhiliang,Wei, Wenzhen,Duan

Experimental neurology · 2025-09-12

Mutant huntingtin exon 1 protein detected in mouse brain with neoepitope antibody: effects of CAG repeat expansion, MutS Homolog 3 silencing and aggregation.

Ellen,Sapp, Adel,Boudi, Andrew,Iwanowicz, Jillian,Belgrad, Rachael,Miller, Riannon,Robertson, Daniel,O'Reilly, Ken,Yamada, Yunping,Deng, Marion,Joni, Xueyi,Li, Kimberly,Kegel-Gleason, Anastasia,Khvorova, Anton,Reiner, Neil,Aronin, Marian,DiFiglia

Brain communications · 2025-08-29

Evaluating the neuroprotective potential of

Pallavi V,Bhosle, Sailesh J,Wadher

In silico pharmacology · 2025-09-01

A simplified hybrid capture approach retains high specificity and enables PCR-free workflow.

Adeline Huizhen,Mah, Xiaodong,Qi, Junhua,Zhao, Kelly,Wiseman, Laure,Edoli, Kyle,Metcalfe, Kyle,Donohoe, Micah,Ojeda, Sophie,Billings, Juan,Moreno, Marina,McCowin, Ben,Krajacich, Kevin,Green, Ramkrishna,Adhikary, Andrew,Boddicker, Joshua,Chan, Peter,Mains, Bryan,Lajoie, Sean,Devitt, Semyon,Kruglyak, Shawn,Levy, Michael,Previte

BMC genomics · 2025-09-02

The HTT gene influences plasma neurofilament light chain and brain metabolism in prodromal Alzheimer's disease.

Salvatore,Mazzeo, Chiara,Crucitti, Michael,Lassi, Assunta,Ingannato, Valentina,Berti, Matilde,Nerattini, Giulia,Giacomucci, Silvia,Bagnoli, Valentina,Moschini, Carmen,Morinelli, Sonia,Padiglioni, Giulia,Galdo, Filippo,Emiliani, Maria,Salsone, Massimo,Filippi, Sandro,Sorbi, Alberto,Mazzoni, Valentina,Bessi, Benedetta,Nacmias

Journal of neurology · 2025-08-22

Expression of polyglutamine repeats at the pathogenic threshold modestly enhances tau neurotoxicity and protein accumulation in

Joshua C,Hincks, Jade G,Stair, Nicole F,Liachko

microPublication biology · 2025-07-31