| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jae Whan Keum, Aram Shin, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Kawther Abu Elneel, Diane Lucente, Tiffany Hadzi, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Le. The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. American journal of human genetics. vol 98. issue 2. 2016-06-22. PMID:26849111. |
huntington disease (hd) is caused by an expanded htt cag repeat that leads in a length-dependent, completely dominant manner to onset of a characteristic movement disorder. |
2016-06-22 |
2023-08-13 |
Not clear |
| Laureen Jacquet, Andreas Neueder, Gabor Földes, Panagiotis Karagiannis, Carl Hobbs, Nelly Jolinon, Maxime Mioulane, Takao Sakai, Sian E Harding, Dusko Ili. Three Huntington's Disease Specific Mutation-Carrying Human Embryonic Stem Cell Lines Have Stable Number of CAG Repeats upon In Vitro Differentiation into Cardiomyocytes. PloS one. vol 10. issue 5. 2016-04-18. PMID:25993131. |
huntington disease (hd; omim 143100), a progressive neurodegenerative disorder, is caused by an expanded trinucleotide cag (polyq) motif in the htt gene. |
2016-04-18 |
2023-08-13 |
human |
| Salah Elias, John Russel McGuire, Hua Yu, Sandrine Humber. Huntingtin Is Required for Epithelial Polarity through RAB11A-Mediated Apical Trafficking of PAR3-aPKC. PLoS biology. vol 13. issue 5. 2016-04-12. PMID:25942483. |
huntingtin (htt), the protein that is mutated in huntington disease, acts as a scaffold for molecular motors and promotes microtubule-based dynamics. |
2016-04-12 |
2023-08-13 |
mouse |
| Leire Valcárcel-Ocete, Gorka Alkorta-Aranburu, Mikel Iriondo, Asier Fullaondo, María García-Barcina, José Manuel Fernández-García, Elena Lezcano-García, José María Losada-Domingo, Javier Ruiz-Ojeda, Amaia Álvarez de Arcaya, José María Pérez-Ramos, Raymund A C Roos, Jørgen E Nielsen, Carsten Saft, Ana M Zubiaga, Ana Aguirr. Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene. PloS one. vol 10. issue 7. 2016-03-30. PMID:26148071. |
age of onset (ao) of huntington disease (hd) is mainly determined by the length of the cag repeat expansion (cagexp) in exon 1 of the htt gene. |
2016-03-30 |
2023-08-13 |
Not clear |
| Monica Bañez-Coronel, Fatma Ayhan, Alex D Tarabochia, Tao Zu, Barbara A Perez, Solaleh Khoramian Tusi, Olga Pletnikova, David R Borchelt, Christopher A Ross, Russell L Margolis, Anthony T Yachnis, Juan C Troncoso, Laura P W Ranu. RAN Translation in Huntington Disease. Neuron. vol 88. issue 4. 2016-03-01. PMID:26590344. |
huntington disease (hd) is caused by a cag ⋅ ctg expansion in the huntingtin (htt) gene. |
2016-03-01 |
2023-08-13 |
human |
| Rona K Graham, Yu Deng, Mahmoud A Pouladi, Kuljeet Vaid, Dagmar Ehrnhoefer, Amber L Southwell, Nagat Bissada, Sonia Franciosi, Michael R Hayde. Caspase-6-Resistant Mutant Huntingtin Does not Rescue the Toxic Effects of Caspase-Cleavable Mutant Huntingtin in vivo. Journal of Huntington's disease. vol 1. issue 2. 2016-02-23. PMID:25063333. |
the amelioration of behavioral and neuropathological deficits in mice expressing caspase-6-resistant (c6r) mutant huntingtin (mhtt), despite the presence of an expanded polyglutamine tract, highlights proteolysis of htt at the 586aa caspase-6 (casp6) site may be an important mechanism in the pathogenesis of huntington disease (hd). |
2016-02-23 |
2023-08-13 |
mouse |
| Agnese De Mario, Chiara Scarlatti, Veronica Costiniti, Simona Primerano, Raffaele Lopreiato, Tito Calì, Marisa Brini, Marta Giacomello, Ernesto Carafol. Calcium Handling by Endoplasmic Reticulum and Mitochondria in a Cell Model of Huntington's Disease. PLoS currents. vol 8. 2016-01-28. PMID:26819834. |
huntington disease (hd) is caused by the cag (q) expansion in exon 1 of the it15 gene encoding a polyglutamine (poly-q) stretch of the huntingtin protein (htt). |
2016-01-28 |
2023-08-13 |
Not clear |
| Margaret M P Pearce, Ellen J Spartz, Weizhe Hong, Liqun Luo, Ron R Kopit. Prion-like transmission of neuronal huntingtin aggregates to phagocytic glia in the Drosophila brain. Nature communications. vol 6. 2016-01-08. PMID:25866135. |
we have established a drosophila model to investigate the role of phagocytic glia in clearance of neuronal mutant huntingtin (htt) aggregates associated with huntington disease. |
2016-01-08 |
2023-08-13 |
drosophila_melanogaster |
| Shaun S Sanders, Michael R Hayde. Aberrant palmitoylation in Huntington disease. Biochemical Society transactions. vol 43. issue 2. 2016-01-01. PMID:25849918. |
huntington disease (hd) is an adult-onset neurodegenerative disease caused by a cag expansion in the htt gene. |
2016-01-01 |
2023-08-13 |
mouse |
| Bibiana K Y Wong, Dagmar E Ehrnhoefer, Rona K Graham, Dale D O Martin, Safia Ladha, Valeria Uribe, Lisa M Stanek, Sonia Franciosi, Xiaofan Qiu, Yu Deng, Vlad Kovalik, Weining Zhang, Mahmoud A Pouladi, Lamya S Shihabuddin, Michael R Hayde. Partial rescue of some features of Huntington Disease in the genetic absence of caspase-6 in YAC128 mice. Neurobiology of disease. vol 76. 2015-12-14. PMID:25583186. |
huntington disease (hd) is a progressive neurodegenerative disease caused by an elongated cag repeat in the huntingtin (htt) gene that encodes a polyglutamine tract in the htt protein. |
2015-12-14 |
2023-08-13 |
mouse |
| Jong-Min Lee, Kyung-Hee Kim, Aram Shin, Michael J Chao, Kawther Abu Elneel, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Julia A Kaye, Hengameh Zahed, Ian H Kratter, Aaron C Daub, Steven Finkbeiner, Hong Li, Jared C Roach, Nathan Goodman, Leroy Hood, Richard H Myers, Marcy E MacDonald, James F Gusell. Sequence-Level Analysis of the Major European Huntington Disease Haplotype. American journal of human genetics. vol 97. issue 3. 2015-12-08. PMID:26320893. |
huntington disease (hd) reflects the dominant consequences of a cag-repeat expansion in htt. |
2015-12-08 |
2023-08-13 |
human |
| Ilenia Ventura, Maria Teresa Russo, Chiara De Nuccio, Gabriele De Luca, Paolo Degan, Antonietta Bernardo, Sergio Visentin, Luisa Minghetti, Margherita Bignam. hMTH1 expression protects mitochondria from Huntington's disease-like impairment. Neurobiology of disease. vol 49. 2015-11-10. PMID:22974734. |
huntington disease (hd) is a neurodegenerative disease caused by expansion of cag repeats in the huntingtin (htt) gene. |
2015-11-10 |
2023-08-12 |
mouse |
| Robert O'Brien, Francesco DeGiacomo, Jennifer Holcomb, Akilah Bonner, Karen L Ring, Ningzhe Zhang, Khan Zafar, Andreas Weiss, Brenda Lager, Birgit Schilling, Bradford W Gibson, Sylvia Chen, Seung Kwak, Lisa M Ellerb. Integration-independent Transgenic Huntington Disease Fragment Mouse Models Reveal Distinct Phenotypes and Life Span in Vivo. The Journal of biological chemistry. vol 290. issue 31. 2015-10-19. PMID:26025364. |
the cascade of events that lead to cognitive decline, motor deficits, and psychiatric symptoms in patients with huntington disease (hd) is triggered by a polyglutamine expansion in the n-terminal region of the huntingtin (htt) protein. |
2015-10-19 |
2023-08-13 |
mouse |
| Michele C Darrow, Oksana A Sergeeva, Jose M Isas, Jesús G Galaz-Montoya, Jonathan A King, Ralf Langen, Michael F Schmid, Wah Chi. Structural Mechanisms of Mutant Huntingtin Aggregation Suppression by the Synthetic Chaperonin-like CCT5 Complex Explained by Cryoelectron Tomography. The Journal of biological chemistry. vol 290. issue 28. 2015-09-29. PMID:25995452. |
huntington disease, a neurodegenerative disorder characterized by functional deficits and loss of striatal neurons, is linked to an expanded and unstable cag trinucleotide repeat in the huntingtin gene (htt). |
2015-09-29 |
2023-08-13 |
Not clear |
| O Melamed, D M Behar, C Bram, N Magal, E Pras, H Reznik-Wolf, Z U Borochowitz, B Davidov, R Mor-Cohen, H N Bari. Founder mutation for Huntington disease in Caucasus Jews. Clinical genetics. vol 87. issue 2. 2015-09-16. PMID:24405192. |
huntington disease (hd), an autosomal dominant disorder involving htt, is characterized by chorea, psychiatric illness and cognitive decline. |
2015-09-16 |
2023-08-12 |
Not clear |
| Valerio Leoni, Claudio Cacci. The impairment of cholesterol metabolism in Huntington disease. Biochimica et biophysica acta. vol 1851. issue 8. 2015-08-25. PMID:25596342. |
huntington disease (hd), an autosomal dominant neurodegenerative disorder caused by an abnormal expansion of cag trinucleotide repeat in the huntingtin (htt) gene, is characterized by extensive neurodegeneration of striatum and cortex and severe diffuse atrophy at mri. |
2015-08-25 |
2023-08-13 |
Not clear |
| Dale D O Martin, Safia Ladha, Dagmar E Ehrnhoefer, Michael R Hayde. Autophagy in Huntington disease and huntingtin in autophagy. Trends in neurosciences. vol 38. issue 1. 2015-08-21. PMID:25282404. |
in huntington disease (hd), an expansion of the polyglutamine (polyq) tract in the n-terminus of the huntingtin (htt) protein leads to protein aggregation. |
2015-08-21 |
2023-08-13 |
Not clear |
| Kristina Bečanović, Anne Nørremølle, Scott J Neal, Chris Kay, Jennifer A Collins, David Arenillas, Tobias Lilja, Giulia Gaudenzi, Shiana Manoharan, Crystal N Doty, Jessalyn Beck, Nayana Lahiri, Elodie Portales-Casamar, Simon C Warby, Colúm Connolly, Rebecca A G De Souza, Sarah J Tabrizi, Ola Hermanson, Douglas R Langbehn, Michael R Hayden, Wyeth W Wasserman, Blair R Leavit. A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease. Nature neuroscience. vol 18. issue 6. 2015-08-06. PMID:25938884. |
a snp in the htt promoter alters nf-κb binding and is a bidirectional genetic modifier of huntington disease. |
2015-08-06 |
2023-08-13 |
Not clear |
| Shaun S Sanders, Katherine K N Mui, Liza M Sutton, Michael R Hayde. Identification of binding sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L. PloS one. vol 9. issue 2. 2015-06-26. PMID:24651384. |
huntington disease is an adult onset neurodegenerative disease characterized by motor, cognitive, and psychiatric dysfunction, caused by a cag expansion in the htt gene. |
2015-06-26 |
2023-08-12 |
Not clear |
| Olivier Simard, Marie-Chantal Grégoire, Mélina Arguin, Marc-André Brazeau, Frédéric Leduc, Isabelle Marois, Martin V Richter, Guylain Boissonneaul. Instability of trinucleotidic repeats during chromatin remodeling in spermatids. Human mutation. vol 35. issue 11. 2015-06-26. PMID:25136821. |
we used flow cytometry to achieve separation of differentiating spermatids into four highly purified populations using transgenic mice harboring 160 cag repeats within exon 1 of the human huntington disease gene (htt). |
2015-06-26 |
2023-08-13 |
mouse |