| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| David M Smit. Could a Common Mechanism of Protein Degradation Impairment Underlie Many Neurodegenerative Diseases? Journal of experimental neuroscience. vol 12. 2020-09-30. PMID:30147359. |
prominent species that accumulate early and play fundamental roles in disease pathogenesis are amyloid β (aβ) and tau in alzheimer disease, α-synuclein (α-syn) in parkinson disease, and polyq-expanded huntingtin (htt) in huntington disease. |
2020-09-30 |
2023-08-13 |
Not clear |
| Wojciech J Szlachcic, Kalina Wiatr, Marta Trzeciak, Marek Figlerowicz, Maciej Figie. The Generation of Mouse and Human Huntington Disease iPS Cells Suitable for Frontiers in molecular neuroscience. vol 10. 2020-09-29. PMID:28848389. |
the generation of mouse and human huntington disease ips cells suitable for huntington disease (hd) is an incurable neurodegenerative disorder caused by expansion of cag repeats in huntingtin (htt) gene, resulting in expanded polyglutamine tract in htt protein. |
2020-09-29 |
2023-08-13 |
mouse |
| Maxmore Chaibva, Xiang Gao, Pranav Jain, Warren A Campbell, Shelli L Frey, Justin Legleite. Sphingomyelin and GM1 Influence Huntingtin Binding to, Disruption of, and Aggregation on Lipid Membranes. ACS omega. vol 3. issue 1. 2020-09-29. PMID:29399649. |
huntington disease (hd) is an inherited neurodegenerative disease caused by the expansion beyond a critical threshold of a polyglutamine (polyq) tract near the n-terminus of the huntingtin (htt) protein. |
2020-09-29 |
2023-08-13 |
Not clear |
| Marina R von Essen, Marie N N Hellem, Tua Vinther-Jensen, Cecilie Ammitzbøll, Rikke H Hansen, Lena E Hjermind, Troels T Nielsen, Jørgen E Nielsen, Finn Sellebjer. Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease. Annals of neurology. vol 87. issue 2. 2020-05-18. PMID:31725947. |
huntington disease (hd) is an autosomal dominantly inherited neurodegenerative disorder caused by a cag repeat expansion in the huntingtin (htt) gene. |
2020-05-18 |
2023-08-13 |
Not clear |
| Yin Xu, Sheng Zhang, Hui Zhen. The cargo receptor SQSTM1 ameliorates neurofibrillary tangle pathology and spreading through selective targeting of pathological MAPT (microtubule associated protein tau). Autophagy. vol 15. issue 4. 2020-05-11. PMID:30290707. |
abbreviations: aav: adeno-associated virus; ad: alzheimer disease; alp: autophagy-lysosomal pathway; als: amyotrophic lateral sclerosis; calcoco2/ndp52: calcium binding and coiled-coil domain 2; ftd: frontotemporal dementias; hd: huntington disease; htt: huntingtin; lir: lc3-interacting region; nbr1: autophagy cargo receptor; nfe2l2/nrf2: nuclear factor, erythroid derived 2, like 2; nfts: neurofibrillary tangles; mapt: microtubule associated protein tau; optn: optineurin; p-mapt: hyperphosphorylated mapt; pfa: paraformaldehyde; tardbp/tdp-43: tar dna binding protein; tax1bp1 tax1: binding protein 1; thios: thioflavin-s; uba: ubiquitin-associated. |
2020-05-11 |
2023-08-13 |
mouse |
| Linda M van der Graaf, Sarah L Gardiner, Merve Tok, Tom Brands, Merel W Boogaard, Barry A Pepers, Bert Eussen, Annelies de Klein, N Ahmad Aziz, Christian Freund, Ronald A M Buijsen, Willeke M C van Roon-Mo. Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease. Stem cell research. vol 39. 2020-04-27. PMID:31326748. |
huntington disease (hd) is an autosomal dominant, neurodegenerative disease caused by a cag repeat expansion within the coding sequence of the htt gene, resulting in a highly toxic protein with an expanded polyglutamine stretch that forms typical protein aggregates throughout the brain. |
2020-04-27 |
2023-08-13 |
human |
| Chris Kay, Jennifer A Collins, Nicholas S Caron, Luciana de Andrade Agostinho, Hailey Findlay-Black, Lorenzo Casal, Dulika Sumathipala, Vajira H W Dissanayake, Mario Cornejo-Olivas, Fiona Baine, Amanda Krause, Jacquie L Greenberg, Carmen Lúcia Antão Paiva, Ferdinando Squitieri, Michael R Hayde. A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. American journal of human genetics. vol 105. issue 6. 2020-04-02. PMID:31708117. |
a comprehensive haplotype-targeting strategy for allele-specific htt suppression in huntington disease. |
2020-04-02 |
2023-08-13 |
human |
| Chris Kay, Jennifer A Collins, Nicholas S Caron, Luciana de Andrade Agostinho, Hailey Findlay-Black, Lorenzo Casal, Dulika Sumathipala, Vajira H W Dissanayake, Mario Cornejo-Olivas, Fiona Baine, Amanda Krause, Jacquie L Greenberg, Carmen Lúcia Antão Paiva, Ferdinando Squitieri, Michael R Hayde. A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. American journal of human genetics. vol 105. issue 6. 2020-04-02. PMID:31708117. |
huntington disease (hd) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in htt. |
2020-04-02 |
2023-08-13 |
human |
| Nicholas S Caron, Amber L Southwell, Cynthia C Brouwers, Louisa Dal Cengio, Yuanyun Xie, Hailey Findlay Black, Lisa M Anderson, Seunghyun Ko, Xiang Zhu, Sander J van Deventer, Melvin M Evers, Pavlina Konstantinova, Michael R Hayde. Potent and sustained huntingtin lowering via AAV5 encoding miRNA preserves striatal volume and cognitive function in a humanized mouse model of Huntington disease. Nucleic acids research. vol 48. issue 1. 2020-03-18. PMID:31745548. |
huntington disease (hd) is a fatal neurodegenerative disease caused by a pathogenic expansion of a cag repeat in the huntingtin (htt) gene. |
2020-03-18 |
2023-08-13 |
mouse |
| Hongsun Park, Haruko Miyazaki, Tomoyuki Yamanaka, Nobuyuki Nukin. Non-coding RNA Neat1 and Abhd11os expressions are dysregulated in medium spiny neurons of Huntington disease model mice. Neuroscience research. vol 147. 2020-03-17. PMID:30391555. |
huntington disease (hd) is a neurodegenerative disorder caused by expanded cag repeats in the exon1 of huntingtin gene (htt). |
2020-03-17 |
2023-08-13 |
mouse |
| Galen E B Wright, Jennifer A Collins, Chris Kay, Cassandra McDonald, Egor Dolzhenko, Qingwen Xia, Kristina Bečanović, Britt I Drögemöller, Alicia Semaka, Charlotte M Nguyen, Brett Trost, Fiona Richards, Emilia K Bijlsma, Ferdinando Squitieri, Colin J D Ross, Stephen W Scherer, Michael A Eberle, Ryan K C Yuen, Michael R Hayde. Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease. American journal of human genetics. vol 104. issue 6. 2020-03-11. PMID:31104771. |
huntington disease (hd) is caused by a cag repeat expansion in the huntingtin (htt) gene. |
2020-03-11 |
2023-08-13 |
Not clear |
| Arianna Novati, Thomas Hentrich, Zinah Wassouf, Jonasz J Weber, Libo Yu-Taeger, Nicole Déglon, Huu Phuc Nguyen, Julia M Schulze-Hentric. Environment-dependent striatal gene expression in the BACHD rat model for Huntington disease. Scientific reports. vol 8. issue 1. 2019-10-07. PMID:29643462. |
huntington disease (hd) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin (htt) gene which results in progressive neurodegeneration in the striatum, cortex, and eventually most brain areas. |
2019-10-07 |
2023-08-13 |
mouse |
| D D O Martin, C Kay, J A Collins, Y T Nguyen, R A Slama, M R Hayde. A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease. Scientific reports. vol 8. issue 1. 2019-10-07. PMID:29802276. |
huntington disease (hd) is a dominantly inherited neurodegenerative disorder caused by an expanded cag trinucleotide repeat in the huntingtin (htt) gene. |
2019-10-07 |
2023-08-13 |
human |
| Kenneth W Drombosky, Sascha Rode, Ravi Kodali, Tija C Jacob, Michael J Palladino, Ronald Wetze. Mutational analysis implicates the amyloid fibril as the toxic entity in Huntington's disease. Neurobiology of disease. vol 120. 2019-09-06. PMID:30171891. |
in huntington disease (hd), an expanded polyglutamine (polyq > 37) sequence within huntingtin (htt) exon1 leads to enhanced disease risk. |
2019-09-06 |
2023-08-13 |
rat |
| Ida Höijer, Yu-Chih Tsai, Tyson A Clark, Paul Kotturi, Niklas Dahl, Eva-Lena Stattin, Marie-Louise Bondeson, Lars Feuk, Ulf Gyllensten, Adam Ameu. Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing. Human mutation. vol 39. issue 9. 2019-07-26. PMID:29932473. |
here, we used an amplification-free protocol for targeted enrichment utilizing the crispr/cas9 system (no-amp targeted sequencing) in combination with single molecule, real-time (smrt) sequencing for studying repeat elements in the huntingtin (htt) gene, where an expanded cag repeat is causative for huntington disease. |
2019-07-26 |
2023-08-13 |
human |
| Xiaoli Sun, Yuhua Fu, Yuyin Pan, Boxun L. Conformation-dependent recognition of mutant HTT (huntingtin) proteins by selective autophagy. Autophagy. vol 13. issue 12. 2019-07-05. PMID:28976800. |
protein misfolding is the common theme for neurodegenerative disorders including huntington disease (hd), which is mainly caused by cytotoxicity of the mutant htt (huntingtin) protein (mhtt). |
2019-07-05 |
2023-08-13 |
mouse |
| Amanda Krause, Heather Seymour, Michèle Ramsa. Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. Annual review of genomics and human genetics. vol 19. 2019-06-24. PMID:30169122. |
locus heterogeneity is present for huntington disease, with two common triplet expansion loci in africa, htt and jph3. |
2019-06-24 |
2023-08-13 |
Not clear |
| Jeffrey D Long, Jong-Min Lee, Elizabeth H Aylward, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Kawther Abu Elneel, Michael J Chao, Jane S Paulsen, Marcy E MacDonald, James F Gusell. Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. American journal of human genetics. vol 103. issue 3. 2019-05-14. PMID:30122542. |
age at onset of huntington disease, an inherited neurodegenerative disorder, is influenced by the size of the disease-causing cag trinucleotide repeat expansion in htt and by genetic modifier loci on chromosomes 8 and 15. |
2019-05-14 |
2023-08-13 |
human |
| Mandi E Schmidt, Caodu Buren, James P Mackay, Daphne Cheung, Louisa Dal Cengio, Lynn A Raymond, Michael R Hayde. Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease. BMC biology. vol 16. issue 1. 2019-05-13. PMID:29945611. |
huntington disease (hd) is a fatal neurodegenerative disorder caused by a cag expansion in the huntingtin (htt) gene, leading to selective and progressive neuronal death predominantly in the striatum. |
2019-05-13 |
2023-08-13 |
mouse |
| Paulina Jędrak, Paweł Mozolewski, Grzegorz Węgrzyn, Mariusz R Więckowsk. Mitochondrial alterations accompanied by oxidative stress conditions in skin fibroblasts of Huntington's disease patients. Metabolic brain disease. vol 33. issue 6. 2019-05-13. PMID:30120672. |
huntington disease (hd) is an autosomal dominant neurodegenerative disorder manifesting as progressive impairment of motor function and different neuropsychiatric symptoms caused by an expansion of cag repeats in huntingtin gene (htt). |
2019-05-13 |
2023-08-13 |
Not clear |