| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sarah J Tabrizi, Michael D Flower, Christopher A Ross, Edward J Wil. Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities. Nature reviews. Neurology. vol 16. issue 10. 2021-06-24. PMID:32796930. |
huntington disease (hd) is a neurodegenerative disease caused by cag repeat expansion in the huntingtin gene (htt) and involves a complex web of pathogenic mechanisms. |
2021-06-24 |
2023-08-13 |
human |
| Chia-Lung Chuang, Fabio Demonti. Systemic manifestation and contribution of peripheral tissues to Huntington's disease pathogenesis. Ageing research reviews. vol 69. 2021-06-24. PMID:33979693. |
huntington disease (hd) is an autosomal dominant neurodegenerative disease that is caused by expansion of cytosine/adenosine/guanine repeats in the huntingtin (htt) gene, which leads to a toxic, aggregation-prone, mutant htt-polyq protein. |
2021-06-24 |
2023-08-13 |
Not clear |
| Leora Fox, Ai Yamamot. Examining aggregates through the eyes of WDFY3/Alfy. Autophagy. vol 16. issue 5. 2021-06-07. PMID:32150493. |
in this autophagic punctum, we discuss our recent findings of how the selectivity scaffold/adaptor wdfy3/alfy is required for the turnover of aggregated mutant htt (huntingtin; mhtt) in the adult brain, and how it confers resistance to huntington disease (hd)-like symptoms. |
2021-06-07 |
2023-08-13 |
mouse |
| Sandra Franco-Iborra, Ainhoa Plaza-Zabala, Marta Montpeyo, David Sebastian, Miquel Vila, Marta Martinez-Vicent. Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease. Autophagy. vol 17. issue 3. 2021-05-25. PMID:32093570. |
mutant htt (huntingtin) impairs mitophagy in a cellular model of huntington disease. |
2021-05-25 |
2023-08-13 |
Not clear |
| Ferdinando Squitieri, Tommaso Mazza, Sabrina Maffi, Alessandro De Luca, Qasem AlSalmi, Salma AlHarasi, Jennifer A Collins, Chris Kay, Fiona Baine-Savanhu, Bernard G Landwhermeyer, Umberto Sabatini, Michael R Hayde. Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 11. 2021-04-28. PMID:32661355. |
tracing the mutated htt and haplotype of the african ancestor who spread huntington disease into the middle east. |
2021-04-28 |
2023-08-13 |
Not clear |
| Hailey Findlay Black, Galen E B Wright, Jennifer A Collins, Nicholas Caron, Chris Kay, Qingwen Xia, Larissa Arning, Emilia K Bijlsma, Ferdinando Squitieri, Huu Phuc Nguyen, Michael R Hayde. Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 12. 2021-04-27. PMID:32741964. |
frequency of the loss of caa interruption in the htt cag tract and implications for huntington disease in the reduced penetrance range. |
2021-04-27 |
2023-08-13 |
Not clear |
| Hailey Findlay Black, Galen E B Wright, Jennifer A Collins, Nicholas Caron, Chris Kay, Qingwen Xia, Larissa Arning, Emilia K Bijlsma, Ferdinando Squitieri, Huu Phuc Nguyen, Michael R Hayde. Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 12. 2021-04-27. PMID:32741964. |
in some huntington disease (hd) patients, the "loss of interruption" (loi) variant eliminates an interrupting codon in the htt cag-repeat tract, which causes earlier age of onset (aoo). |
2021-04-27 |
2023-08-13 |
Not clear |
| Thays A Apolinário, Iane Dos Santos da Silva, Luciana de Andrade Agostinho, Carmen L A Paiv. Investigation of intermediate CAG alleles of the HTT in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease-affected families. Molecular genetics & genomic medicine. vol 8. issue 4. 2021-04-02. PMID:32067426. |
huntington disease (hd) (mim: 143100) is a severe autosomal dominant neurodegenerative disease caused by the expansion of cag trinucleotides (>35) in the htt. |
2021-04-02 |
2023-08-13 |
Not clear |
| Niels Henning Skotte, Mahmoud A Pouladi, Dagmar E Ehrnhoefer, Katie Huynh, Xiaofan Qiu, Signe Marie Borch Nielsen, Troels Tolstrup Nielsen, Anne Nørremølle, Michael R Hayde. Compromised IGF signaling causes caspase-6 activation in Huntington disease. Experimental neurology. vol 332. 2021-03-09. PMID:32622701. |
huntington disease (hd) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine repeat in the huntingtin (htt) protein. |
2021-03-09 |
2023-08-13 |
mouse |
| Alessia Mongelli, Stefania Magri, Elena Salvatore, Elena Rizzo, Anna De Rosa, Tommasina Fico, Marta Gatti, Cinzia Gellera, Franco Taroni, Caterina Mariotti, Lorenzo Nanett. Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 41. issue 6. 2021-02-26. PMID:31940111. |
huntington disease (hd) and spinocerebellar ataxia type 1-2-17 (sca1-2-17) are adult-onset autosomal dominant diseases, caused by triplet repeat expansions in the htt, atxn1, atxn2, and tbp genes. |
2021-02-26 |
2023-08-13 |
Not clear |
| Blair R Leavitt, Holly B Kordasiewicz, Scott A Schobe. Huntingtin-Lowering Therapies for Huntington Disease: A Review of the Evidence of Potential Benefits and Risks. JAMA neurology. vol 77. issue 6. 2021-02-17. PMID:32202594. |
huntington disease (hd) is caused by a cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin gene, htt, that results in expression of variant (mutant) huntingtin protein (htt). |
2021-02-17 |
2023-08-13 |
mouse |
| Andrea Gallardo-Orihuela, Irati Hervás-Corpión, Carmen Hierro-Bujalance, Daniel Sanchez-Sotano, Gema Jiménez-Gómez, Francisco Mora-López, Antonio Campos-Caro, Monica Garcia-Alloza, Luis M Valo. Transcriptional correlates of the pathological phenotype in a Huntington's disease mouse model. Scientific reports. vol 9. issue 1. 2020-11-23. PMID:31822756. |
huntington disease (hd) is a fatal neurodegenerative disorder without a cure that is caused by an aberrant expansion of cag repeats in exon 1 of the huntingtin (htt) gene. |
2020-11-23 |
2023-08-13 |
mouse |
| Mingjue Zhao, Felicia Siew Hong Cheah, Arnold Sia Chye Tan, Mulias Lian, Gui Ping Phang, Anupriya Agarwal, Samuel S Chon. Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping. Scientific reports. vol 9. issue 1. 2020-11-04. PMID:31712634. |
robust preimplantation genetic testing of huntington disease by combined triplet-primed pcr analysis of the htt cag repeat and multi-microsatellite haplotyping. |
2020-11-04 |
2023-08-13 |
Not clear |
| Mingjue Zhao, Felicia Siew Hong Cheah, Arnold Sia Chye Tan, Mulias Lian, Gui Ping Phang, Anupriya Agarwal, Samuel S Chon. Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping. Scientific reports. vol 9. issue 1. 2020-11-04. PMID:31712634. |
huntington disease (hd) is a lethal neurodegenerative disorder caused by expansion of a cag repeat within the huntingtin (htt) gene. |
2020-11-04 |
2023-08-13 |
Not clear |
| Yu-Hsien Lin, Houda Ouns Maaroufi, Emad Ibrahim, Lucie Kucerova, Michal Zurove. Expression of Human Mutant Huntingtin Protein in Frontiers in immunology. vol 10. 2020-10-29. PMID:31681295. |
expression of human mutant huntingtin protein in the pathogenic effect of mutant htt (mhtt) which causes huntington disease (hd) are not restricted to nervous system. |
2020-10-29 |
2023-08-13 |
human |
| Qiong Liu, Siying Cheng, Huiming Yang, Louyin Zhu, Yongcheng Pan, Liang Jing, Beisha Tang, Shihua Li, Xiao-Jiang L. Loss of Hap1 selectively promotes striatal degeneration in Huntington disease mice. Proceedings of the National Academy of Sciences of the United States of America. vol 117. issue 33. 2020-10-06. PMID:32747555. |
huntington disease (hd) is an ideal model for investigating selective neurodegeneration, as expanded polyq repeats in the ubiquitously expressed huntingtin (htt) cause the preferential neurodegeneration in the striatum of the hd patient brains. |
2020-10-06 |
2023-08-13 |
mouse |
| Dong-Kyu Kim, Kyu-Won Cho, Woo Jung Ahn, Dayana Perez-Acuña, Hyunsu Jeong, He-Jin Lee, Seung-Jae Le. Cell-to-cell Transmission of Polyglutamine Aggregates in Experimental neurobiology. vol 26. issue 6. 2020-10-01. PMID:29302199. |
cell-to-cell transmission of polyglutamine aggregates in huntington disease (hd) is an inherited neurodegenerative disorder characterized by motor and cognitive dysfunction caused by expansion of polyglutamine (polyq) repeat in exon 1 of huntingtin (htt). |
2020-10-01 |
2023-08-13 |
Not clear |
| Anne-Christine Plank, Fabio Canneva, Kerstin A Raber, Yvonne K Urbach, Julia Dobner, Maja Puchades, Jan G Bjaalie, Clarissa Gillmann, Tobias Bäuerle, Olaf Riess, Hoa H P Nguyen, Stephan von Hörste. Early Alterations in Operant Performance and Prominent Huntingtin Aggregation in a Congenic F344 Rat Line of the Classical CAG Frontiers in neuroscience. vol 12. 2020-10-01. PMID:29422836. |
early alterations in operant performance and prominent huntingtin aggregation in a congenic f344 rat line of the classical cag the transgenic rat model of huntington disease expressing a fragment of mutant htt (tghd rat) has been thoroughly characterized and reproduces hallmark symptoms of human adult-onset hd. |
2020-10-01 |
2023-08-13 |
human |
| Susanna Ylönen, Jussi O T Sipilä, Marja Hietala, Kari Majama. HTT haplogroups in Finnish patients with Huntington disease. Neurology. Genetics. vol 5. issue 3. 2020-10-01. PMID:31086827. |
htt haplogroups in finnish patients with huntington disease. |
2020-10-01 |
2023-08-13 |
Not clear |
| Sonay Keskin, Cynthia C Brouwers, Marina Sogorb-Gonzalez, Raygene Martier, Josse A Depla, Astrid Vallès, Sander J van Deventer, Pavlina Konstantinova, Melvin M Ever. AAV5-miHTT Lowers Huntingtin mRNA and Protein without Off-Target Effects in Patient-Derived Neuronal Cultures and Astrocytes. Molecular therapy. Methods & clinical development. vol 15. 2020-10-01. PMID:31737741. |
huntington disease (hd) is a fatal neurodegenerative genetic disorder, thought to reflect a toxic gain of function in huntingtin (htt) protein. |
2020-10-01 |
2023-08-13 |
Not clear |