| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P Bates, G Bernhard Landwehrmeyer, Andreas Neuede. Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues. Molecular medicine (Cambridge, Mass.). vol 30. issue 1. 2024-03-08. PMID:38459427. |
the disease-causing mutation in huntington disease (hd) is a cag trinucleotide expansion in the huntingtin (htt) gene. |
2024-03-08 |
2024-03-11 |
mouse |
| Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming, Darren G Monckton, Maria A Ramos-Arroy. Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European journal of human genetics : EJHG. 2024-03-03. PMID:38433266. |
huntington disease (hd) is a neurodegenerative disorder caused by ≥36 cags in the htt gene. |
2024-03-03 |
2024-03-06 |
human |
| Karin Dalene Skarping, Larissa Arning, Åsa Petersén, Huu Phuc Nguyen, Samuel Gebre-Medhi. Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome. Scientific reports. vol 14. issue 1. 2024-02-21. PMID:38383663. |
dna mismatch repair (mmr) is thought to contribute to the onset and progression of huntington disease (hd) by promoting somatic expansion of the pathogenic cag nucleotide repeat in the huntingtin gene (htt). |
2024-02-21 |
2024-02-24 |
Not clear |
| Xuanzhuo Liu, Fang Wang, Xinman Fan, Mingyi Chen, Xiaoxin Xu, Qiuhong Xu, Huili Zhu, Anding Xu, Mahmoud A Pouladi, Xiaohong X. CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress. Cell death & disease. vol 15. issue 2. 2024-02-10. PMID:38341417. |
huntington disease (hd) is a neurodegenerative disease caused by the abnormal expansion of a polyglutamine tract resulting from a mutation in the htt gene. |
2024-02-10 |
2024-02-14 |
mouse |
| Nicholas S Caron, Amirah E-E Aly, Hailey Findlay Black, Dale D O Martin, Mandi E Schmidt, Seunghyun Ko, Christine Anderson, Emily M Harvey, Lorenzo L Casal, Lisa M Anderson, Seyed M R Rahavi, Gregor S D Reid, Michael N Oda, Danica Stanimirovic, Abedelnasser Abulrob, Jodi L McBride, Blair R Leavitt, Michael R Hayde. Systemic delivery of mutant huntingtin lowering antisense oligonucleotides to the brain using apolipoprotein A-I nanodisks for Huntington disease. Journal of controlled release : official journal of the Controlled Release Society. 2024-01-12. PMID:38215984. |
huntington disease (hd) is a dominantly inherited neurodegenerative disorder caused by a cag trinucleotide expansion mutation in the htt gene which codes for a toxic mutant huntingtin (mhtt) protein. |
2024-01-12 |
2024-01-15 |
mouse |
| Elsa C Kuijper, Maurice Overzier, Ernst Suidgeest, Oleh Dzyubachyk, Cecile Maguin, Jean-Baptiste Pérot, Julien Flament, Yavuz Ariyurek, Hailiang Mei, Ronald A M Buijsen, Louise van der Weerd, Willeke van Roon-Mo. Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice. Neurobiology of disease. 2023-12-01. PMID:38040383. |
antisense oligonucleotide-mediated disruption of htt caspase-6 cleavage site ameliorates the phenotype of yac128 huntington disease mice. |
2023-12-01 |
2023-12-10 |
mouse |
| Elsa C Kuijper, Maurice Overzier, Ernst Suidgeest, Oleh Dzyubachyk, Cecile Maguin, Jean-Baptiste Pérot, Julien Flament, Yavuz Ariyurek, Hailiang Mei, Ronald A M Buijsen, Louise van der Weerd, Willeke van Roon-Mo. Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice. Neurobiology of disease. 2023-12-01. PMID:38040383. |
in huntington disease, cellular toxicity is particularly caused by toxic protein fragments generated from the mutant huntingtin (htt) protein. |
2023-12-01 |
2023-12-10 |
mouse |
| Hong Zhang, Si Wu, Laura S Itzhaki, Sarah Perret. Interaction between Huntingtin exon 1 and HEAT repeat structure probed by chimeric model proteins. Protein science : a publication of the Protein Society. 2023-10-19. PMID:37853955. |
huntington disease (hd) is associated with aggregation of huntingtin (htt) protein containing over 35 continuous q residues within the n-terminal exon 1 encoded region. |
2023-10-19 |
2023-11-08 |
Not clear |
| Jeremy M Van Raamsdonk, Hilal H Al-Shekaili, Laura Wagner, Tim W Bredy, Laura Chan, Jacqueline Pearson, Claudia Schwab, Zoe Murphy, Rebecca S Devon, Ge Lu, Michael S Kobor, Michael R Hayden, Blair R Leavit. Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice. Aging and disease. 2023-05-18. PMID:37199581. |
huntington disease (hd) is an adult-onset neurodegenerative disorder that is caused by a trinucleotide cag repeat expansion in the htt gene that codes for the protein huntingtin (htt in humans or htt in mice). |
2023-05-18 |
2023-08-14 |
mouse |
| Raffaella Bonavita, Gianluca Scerra, Rosaria Di Martino, Silvia Nuzzo, Elena Polishchuk, Mariagrazia Di Gennaro, Sarah V Williams, Maria Gabriella Caporaso, Carmen Caiazza, Roman Polishchuk, Massimo D'Agostino, Angeleen Fleming, Maurizio Renn. The HSPB1-p62/SQSTM1 functional complex regulates the unconventional secretion and transcellular spreading of the HD-associated mutant huntingtin protein. Human molecular genetics. 2023-03-27. PMID:36971475. |
huntington disease (hd) has autosomal dominant inheritance and is caused by mutations leading to an abnormal expansion in the polyglutamine (polyq) tract of the huntingtin (htt) protein, leading to the formation of htt inclusion bodies in neurons of affected patients. |
2023-03-27 |
2023-08-14 |
Not clear |
| Andrea Sturchio, Andrew P Duker, Ignacio Muñoz-Sanjuan, Alberto J Espa. Subtyping monogenic disorders: Huntington disease. Handbook of clinical neurology. vol 193. 2023-02-21. PMID:36803810. |
moreover, many other biological pathways are altered in huntington disease, such as in the autophagic system, mitochondria, and essential proteins beyond htt, potentially explaining biological and clinical differences among affected individuals. |
2023-02-21 |
2023-08-14 |
Not clear |
| 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 Hylckama Vlieg, Ko Willems Dijk, Dennis O Mook-Kanamor. Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index. Human molecular genetics. 2023-01-30. PMID:36715614. |
tandem cag repeat sizes of 36 or more in the huntingtin gene (htt) cause huntington disease. |
2023-01-30 |
2023-08-14 |
Not clear |
| Ainara Ruiz Sabando, Edurne Urrutia Lafuente, Arkaitz Galbete, Marc Ciosi, Fermín García Amigot, Virginia García Solaesa, Darren G Monckton, Maria A Ramos-Arroy. Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. Human molecular genetics. 2022-09-21. PMID:36130218. |
spanish htt gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in huntington disease. |
2022-09-21 |
2023-08-14 |
Not clear |
| Ainara Ruiz Sabando, Edurne Urrutia Lafuente, Arkaitz Galbete, Marc Ciosi, Fermín García Amigot, Virginia García Solaesa, Darren G Monckton, Maria A Ramos-Arroy. Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. Human molecular genetics. 2022-09-21. PMID:36130218. |
we aimed to determine the genetic diversity and molecular characteristics of the huntington disease (hd) gene (htt) in spain. |
2022-09-21 |
2023-08-14 |
Not clear |
| Sophie Lenoir, Romane A Lahaye, Hélène Vitet, Chiara Scaramuzzino, Amandine Virlogeux, Laetitia Capellano, Aurélie Genoux, Noga Gershoni-Emek, Michal Geva, Michael R Hayden, Frédéric Saudo. Pridopidine rescues BDNF/TrkB trafficking dynamics and synapse homeostasis in a Huntington disease brain-on-a-chip model. Neurobiology of disease. 2022-09-08. PMID:36075537. |
huntington disease (hd) is a neurodegenerative disorder caused by polyglutamine-encoding cag repeat expansion in the huntingtin (htt) gene. |
2022-09-08 |
2023-08-14 |
mouse |
| Jong-Min Lee, Marcy E MacDonald, James F Gusell. Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration. American journal of human genetics. vol 109. issue 7. 2022-07-08. PMID:35803234. |
inherited htt cag repeat length does not have a major impact on huntington disease duration. |
2022-07-08 |
2023-08-14 |
Not clear |
| 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 Bate. Alternative processing of human HTT mRNA with implications for Huntington's disease therapeutics. Brain : a journal of neurology. 2022-07-06. PMID:35793238. |
huntington disease is caused by a cag repeat expansion in exon 1 of the huntingtin gene (htt) that is translated into a polyglutamine stretch in the huntingtin protein (htt). |
2022-07-06 |
2023-08-14 |
mouse |
| Junsheng Yang, Huilin Xu, Chaoyue Zhang, Xiaotong Yang, Weijie Cai, Xiaoli Che. A prion-like domain of TFEB mediates the co-aggregation of TFEB and mHTT. Autophagy. 2022-05-31. PMID:35635192. |
the aggregation of mutant htt (huntingtin; mhtt) is a hallmark of huntington disease (hd). |
2022-05-31 |
2023-08-13 |
Not clear |
| Richard A Hickman, Phyllis L Faust, Karen Marder, Ai Yamamoto, Jean-Paul Vonsatte. The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade. Acta neuropathologica communications. vol 10. issue 1. 2022-04-20. PMID:35440014. |
huntington disease is characterized by progressive neurodegeneration, especially of the striatum, and the presence of polyglutamine huntingtin (htt) inclusions. |
2022-04-20 |
2023-08-13 |
human |
| Richard A Hickman, Phyllis L Faust, Karen Marder, Ai Yamamoto, Jean-Paul Vonsatte. The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade. Acta neuropathologica communications. vol 10. issue 1. 2022-04-20. PMID:35440014. |
we immunohistochemically studied 65 brains with a pathologic diagnosis of huntington disease to investigate the cortical distributions and densities of htt inclusions within the calcarine (ba17), precuneus (ba7), motor (ba4) and prefrontal (ba9) cortices; in 39 of these brains, a p62 immunostain was used for comparison. |
2022-04-20 |
2023-08-13 |
human |