RNA-Seq expression profiling of genes related to neurodegenerative disorders affecting the human retina

Laura Campello, José Martín-Nieto


Human neurodegenerative diseases, such as Parkinson’s disease (PD) and the neuromuscular disorders called dystroglycanopathies (DGPs), cause retinal impairments. We have used RNA-Seq technology to catalog all known genes linked to PD and DGPs expressed in the human retina and quantitate their mRNA levels in terms of FPKM. We have also characterized their expression profiles in the retina by determining their exonic, intronic and exon-intron junction expression levels, as well as the alternative splicing pattern of particular genes. We believe these data could pave the way toward understanding the molecular bases of sight deficiencies associated with neurodegenerative disorders.


retina; RNA-Seq; neurodegenerative diseases

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DOI: https://doi.org/10.14806/ej.19.A.656


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