ArticleHuman molecular genetics2016
Allelic series of Huntington's disease knock-in mice reveals expression discorrelates.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Advances in Stem Cell Therapy for Huntington's Disease: A Comprehensive Literature Review.Cells · 2025Pooled it
- HSF1 and Its Role in Huntington's Disease Pathology.Advances in experimental medicine and biology · 2023Review
- Modelling the Human Blood-Brain Barrier in Huntington Disease.International journal of molecular sciences · 2022Article
- Article
- Huntington's disease: nearly four decades of human molecular genetics.Human molecular genetics · 2021Review
- What is the Pathogenic CAG Expansion Length in Huntington's Disease?Journal of Huntington's disease · 2021Review
- A Role for PGC-1α in Transcription and Excitability of Neocortical and Hippocampal Excitatory Neurons.Neuroscience · 2020Article
- Sex-dependent impaired locomotion and motor coordination in the HdhQ200/200 mouse model of Huntington's Disease.Neurobiology of disease · 2019Article
- Cell-Specific Deletion of PGC-1α from Medium Spiny Neurons Causes Transcriptional Alterations and Age-Related Motor Impairment.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Progress in developing transgenic monkey model for Huntington's disease.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
- Sex-dependent behavioral impairments in the HdhQ350/+ mouse line.Behavioural brain research · 2018Article
- Reduced Expression of Foxp1 as a Contributing Factor in Huntington's Disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Identifying molecular drivers of pathology provides potential therapeutic targets. Differentiating between drivers and coincidental molecular alterations presents a major challenge. Variation unrelated to pathology further complicates transcriptomic, proteomic and metabolomic studies which measure large numbers of individual molecules. To overcome these challenges towards the goal of determining drivers of Huntington's disease (HD), we generated an allelic series of HD knock-in mice with graded levels of phenotypic severity for comparison with molecular alterations. RNA-sequencing analysis of this series reveals high numbers of transcripts with level alterations that do not correlate with phenotypic severity. These discorrelated molecular changes are unlikely to be drivers of pathology allowing an exclusion-based strategy to provide a short list of driver candidates. Further analysis of the data shows that a majority of transcript level changes in HD knock-in mice involve alteration of the rate of mRNA processing and/or degradation rather than solely being due to alteration of transcription rate. The overall strategy described can be applied to assess the influence of any molecular change on pathology for diseases where different mutations cause graded phenotypic severity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.