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Your search keyword '"Mastropasqua, Francesca"' showing total 6 results
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6 results on '"Mastropasqua, Francesca"'

4. Corrigendum: Profiling RNA editing in human tissues: towards the inosinome Atlas

Author

Picardi, Ernesto, Manzari, Caterina, Mastropasqua, Francesca, Aiello, Italia, D’Erchia, Anna Maria, and Pesole, Graziano

Subjects
Internet, Binding Sites, Base Sequence, Adenosine Deaminase, Genome, Human, Adenine, Muscles, Myocardium, Brain, Sequence Analysis, DNA, Kidney, Corrigenda, Inosine, Cell Line, Liver, Organ Specificity, Databases, Genetic, Humans, RNA, RNA Editing, Lung
Abstract

Adenine to Inosine RNA editing is a widespread co- and post-transcriptional mechanism mediated by ADAR enzymes acting on double stranded RNA. It has a plethora of biological effects, appears to be particularly pervasive in humans with respect to other mammals, and is implicated in a number of diverse human pathologies. Here we present the first human inosinome atlas comprising 3,041,422 A-to-I events identified in six tissues from three healthy individuals. Matched directional total-RNA-Seq and whole genome sequence datasets were generated and analysed within a dedicated computational framework, also capable of detecting hyper-edited reads. Inosinome profiles are tissue specific and edited gene sets consistently show enrichment of genes involved in neurological disorders and cancer. Overall frequency of editing also varies, but is strongly correlated with ADAR expression levels. The inosinome database is available at: http://srv00.ibbe.cnr.it/editing/.

Published
2016

6. Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.

Author

D'Erchia AM, Gallo A, Manzari C, Raho S, Horner DS, Chiara M, Valletti A, Aiello I, Mastropasqua F, Ciaccia L, Locatelli F, Pisani F, Nicchia GP, Svelto M, Pesole G, and Picardi E

Subjects
Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis metabolism, Amyotrophic Lateral Sclerosis pathology, Autopsy, Calcium metabolism, Cell Death, Gene Expression Regulation, Glutamic Acid metabolism, High-Throughput Nucleotide Sequencing, Humans, Male, MicroRNAs genetics, MicroRNAs metabolism, Middle Aged, Motor Neurons pathology, Nerve Tissue Proteins genetics, Nerve Tissue Proteins metabolism, Neuroglia metabolism, Neuroglia pathology, RNA, Messenger metabolism, Signal Transduction, Spinal Cord pathology, Synapses metabolism, Synapses pathology, Synaptosomal-Associated Protein 25 metabolism, Syntaxin 1 metabolism, Amyotrophic Lateral Sclerosis genetics, Motor Neurons metabolism, RNA, Messenger genetics, Spinal Cord metabolism, Synaptosomal-Associated Protein 25 genetics, Syntaxin 1 genetics, Transcriptome
Abstract

ALS is a devastating and debilitating human disease characterized by the progressive death of upper and lower motor neurons. Although much effort has been made to elucidate molecular determinants underlying the onset and progression of the disorder, the causes of ALS remain largely unknown. In the present work, we have deeply sequenced whole transcriptome from spinal cord ventral horns of post-mortem ALS human donors affected by the sporadic form of the disease (which comprises ~90% of the cases but which is less investigated than the inherited form of the disease). We observe 1160 deregulated genes including 18 miRNAs and show that down regulated genes are mainly of neuronal derivation while up regulated genes have glial origin and tend to be involved in neuroinflammation or cell death. Remarkably, we find strong deregulation of SNAP25 and STX1B at both mRNA and protein levels suggesting impaired synaptic function through SNAP25 reduction as a possible cause of calcium elevation and glutamate excitotoxicity. We also note aberrant alternative splicing but not disrupted RNA editing.

Published
2017
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