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DOI:10.1101/2024.12.31.630891 - Corpus ID: 275335096
@article{Sapp2025DetectionOH, title={Detection of HTTex1p by western blot and immunostaining of HD human and mouse brain using neo-epitope antibody P90 highlights impact of CAG repeat expansion on its size, solubility, and response to MSH3 silencing}, author={Ellen Sapp and Adel Boudi and Andrew Iwanowicz and Jillian Belgrad and Rachael Miller and Daniel O’Reilly and Ken Yamada and Yunping Deng and Marion Joni and Xueyi Li and Kimberly B. Kegel-Gleason and Anastasia Khvorova and Anton Reiner and Neil Aronin and Marian Difiglia}, journal={bioRxiv}, year={2025}, url={https://api.semanticscholar.org/CorpusID:275335096}}
- E. Sapp, Adel Boudi, M. Difiglia
- Published in bioRxiv 1 January 2025
- Medicine, Biology
P90 antibodies can be used in western blot assays and immunostaining to track and quantify HTTex1p levels, subcellular localization, and solubility and show that the effects of curbing CAG repeat expansion was quantifiable.
41 References
- Franziska HoschekJulia Natan Andreas Neueder
- 2024
Medicine, Biology
Molecular medicine
Background The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA,…
- 6
- PDF
- Andreas NeuederC. Landles G. Bates
- 2017
Medicine, Biology
Scientific Reports
It is found that the HTTexon1 mRNA is present in fibroblasts from juvenile HD patients and can also be readily detected in the sensory motor cortex, hippocampus and cerebellum of post-mortem brains from HD individuals, particularly in those with early onset disease.
- 178
- Highly Influential
- PDF
- Sandra FieńkoC. Landles G. Bates
- 2022
Medicine, Biology
Brain : a journal of neurology
The levels of exon 1 HTT in YAC128 mice, correlated with HTT aggregation, supportive of the hypothesis that exon 2 HTT initiates the aggregation process, and of the need for agents targeting HTT1a are developed.
- 19
- Highly Influential[PDF]
- E. SappConnor Seeley Kimberly B. Kegel-Gleason
- 2020
Biology, Medicine
Neurobiology of Disease
- 27
- PDF
- E. SappA. Valencia M. Difiglia
- 2012
Biology, Medicine
The Journal of Biological Chemistry
Native full-length mutant htt in embryonic HD140Q/140Q mouse primary neurons was intact during cell death and when cell lysates were exposed to denaturants before BNP, indicating a property of native htt to resist protease cleavage.
- 28
- PDF
- K. SathasivamAndreas Neueder G. Bates
- 2013
Medicine, Biology
Proceedings of the National Academy of Sciences
It is shown that CAG repeat length–dependent aberrant splicing of exon 1 HTT results in a short polyadenylated mRNA that is translated into an exon 2 HTT protein, which provides a mechanistic basis for the molecular pathogenesis of HD.
- 453
- Highly Influential
- PDF
- Z. Bayram-WestonL. JonesS. DunnettS. Brooks
- 2016
Biology, Medicine
PloS one
The data indicate that generalisations across models regarding the quantification of aggregations may not be valid and that mHTT antibody binding is unique to the mouse model and sensitive to changes in inclusion development.
- 19 [PDF]
- C. LandlesK. Sathasivam G. Bates
- 2010
Medicine, Biology
The Journal of Biological Chemistry
It is demonstrated that the smallest fragment is an exon 1 huntingtin protein, known to contain a potent nuclear export signal that accumulate in neuronal nuclei in the form of a detergent insoluble complex, visualized as diffuse granular nuclear staining in tissue sections.
- 303
- Highly Influential
- PDF
- C. LandlesRebecca E Milton G. Bates
- 2020
Medicine, Biology
Brain communications
The R6/2 mouse model is used to investigate the molecular and behavioural consequences of expressing exon 1 HTT with 90 CAGs, a mutation that causes juvenile Huntington’s disease, and it is shown that nuclear aggregation occurred earlier in R 6/2(CAG)90 mice and that this correlated with the onset of transcriptional dysregulation.
- 33
- Highly Influential[PDF]
- Edward J. SmithK. Sathasivam G. Bates
- 2023
Medicine, Biology
Brain communications
The hypothesis that exon 1 huntingtin initiates the aggregation process in knock-in mouse models and pave the way for a detailed analysis of huntingtin aggregation in response to huntingtin-lowering treatments is supported.
- 12 [PDF]
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