ArticleScientific reports2021
A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Classification of ALS molecular subtypes: a literature review on machine learning applications and their clinical value.BMC medicine · 2026Review
- Harnessing transcriptomic signals for amyotrophic lateral sclerosis to identify novel drugs and enhance risk prediction.Heliyon · 2024Article
- Endogenous retroviruses are dysregulated in ALS.iScience · 2024Article
- Review
- New Insights into Endogenous Retrovirus-K Transcripts in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2024Article
- Harnessing Transcriptomic Signals for Amyotrophic Lateral Sclerosis to Identify Novel Drugs and Enhance Risk Prediction.medRxiv : the preprint server for health sciences · 2023Article
- Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.Frontiers in cellular neuroscience · 2023Article
- Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration.Neural regeneration research · 2022Review
- Human Endogenous Retrovirus K Envelope in Spinal Fluid of Amyotrophic Lateral Sclerosis Is Toxic.Annals of neurology · 2022Article
- Retroviral Elements in Pathophysiology and as Therapeutic Targets for Amyotrophic Lateral Sclerosis.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis.Molecular brain · 2022Article
- An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data.Frontiers in bioinformatics · 2022Article
- Neuron-specific chromosomal megadomain organization is adaptive to recent retrotransposon expansions.Nature communications · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
There is increasing evidence that endogenous retroviruses (ERVs) play a significant role in central nervous system diseases, including amyotrophic lateral sclerosis (ALS). Studies of ALS have consistently identified retroviral enzyme reverse transcriptase activity in patients. Evidence indicates that ERVs are the cause of reverse transcriptase activity in ALS, but it is currently unclear whether this is due to a specific ERV locus or a family of ERVs. We employed a combination of bioinformatic methods to identify whether specific ERVs or ERV families are associated with ALS. Using the largest post-mortem RNA-sequence datasets available we selectively identified ERVs that closely resembled full-length proviruses. In the discovery dataset there was one ERV locus (HML6_3p21.31c) that showed significant increased expression in post-mortem motor cortex tissue after multiple-testing correction. Using six replication post-mortem datasets we found HML6_3p21.31c was consistently upregulated in ALS in motor cortex and cerebellum tissue. In addition, HML6_3p21.31c showed significant co-expression with cytokine binding and genes involved in EBV, HTLV-1 and HIV type-1 infections. There were no significant differences in ERV family expression between ALS and controls. Our results support the hypothesis that specific ERV loci are involved in ALS pathology.
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Registered trials
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