ArticleDisease models & mechanisms2016
MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.
Article in Disease models & mechanisms, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Network Pharmacology Approaches Used to Identify Therapeutic Molecules for Chronic Venous Disease Based on Potential miRNA Biomarkers.Journal of xenobiotics · 2024Article
- Non-coding RNAs in human health and disease: potential function as biomarkers and therapeutic targets.Functional & integrative genomics · 2023Review
- NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression.Neural regeneration research · 2022Article
- miRNA-Based Regulation of Alternative RNA Splicing in Metazoans.International journal of molecular sciences · 2021Review
- miRNome profiling in Duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers.Bioscience reports · 2021Article
- Alternative Splicing by NOVA Factors: From Gene Expression to Cell Physiology and Pathology.International journal of molecular sciences · 2020Review
- Induced pluripotent stem cells for disease modeling, cell therapy and drug discovery in genetic autonomic disorders: a review.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Review
- MicroRNAs and Long Non-coding RNAs in Genetic Diseases.Molecular diagnosis & therapy · 2019Review
- Expression of microRNA-23b in patients with sepsis and its effect on leukocytes and the expression of E-selectin and ICAM-1.Experimental and therapeutic medicine · 2018Article
- NOVA1 acts as an oncogene in melanoma via regulating FOXO3a expression.Journal of cellular and molecular medicine · 2018Article
- Neuro-oncological ventral antigen 1 (NOVA1): Implications in neurological diseases and cancers.Cell proliferation · 2017Review
- Animal and cellular models of familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2017Review
- Expression of Salivary miR-203a-3p Was Related with Oral Health-Related Quality of Life in Healthy Volunteers.International journal of molecular sciences · 2017Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
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Abstract
Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ELP1). Small non-coding RNAs known as microRNAs (miRNAs) are important post-transcriptional regulators of gene expression and play an essential role in the nervous system development and function. To better understand the neuronal specificity of IKAP loss, we examined expression of miRNAs in human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from five control individuals and five FD patients. We profiled the expression of 373 miRNAs using microfluidics and reverse transcription coupled to quantitative PCR (RT-qPCR) on two biological replicate series of hOE-MSC cultures from healthy controls and FD patients. This led to the total identification of 26 dysregulated miRNAs in FD, validating the existence of a miRNA signature in FD. We then selected the nine most discriminant miRNAs for further analysis. The signaling pathways affected by these dysregulated miRNAs were largely within the nervous system. In addition, many targets of these dysregulated miRNAs had been previously demonstrated to be affected in FD models. Moreover, we found that four of our nine candidate miRNAs target the neuron-specific splicing factor NOVA1. We demonstrated that overexpression of miR-203a-3p leads to a decrease of NOVA1, counter-balanced by an increase of IKAP, supporting a potential interaction between NOVA1 and IKAP. Taken together, these results reinforce the choice of miRNAs as potential therapeutic targets and suggest that NOVA1 could be a regulator of FD pathophysiology.
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