title: Splicing: is there an alternative contribution to Parkinson's disease?
abstract: Alternative splicing is a crucial mechanism of gene expression regulation that enormously increases the coding potential of our genome and represents an intermediate step between messenger RNA (mRNA) transcription and protein posttranslational modifications. Alternative splicing occupies a central position in the development and functions of the nervous system. Therefore, its deregulation frequently leads to several neurological human disorders. In the present review, we provide an updated overview on the impact of alternative splicing in Parkinson's disease (PD), the second most common neurodegenerative disorder worldwide. We will describe the alternative splicing of major PD-linked genes by collecting the current evidences about this intricate and not carefully explored aspect. Assessing the role of this mechanism on PD pathobiology may represent a central step toward an improved understanding of this complex disease.
authors.affiliation: Institute of Neurological Sciences, Italian National Research Council, Via Paolo Gaifami 18, 95125, Catania, Sicily, Italy.|Department of Biomedical and Biotechnological Sciences, Section of Human Anatomy and Histology, University of Catania, Catania, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: La Cognata
authors.affiliation: Department of Biomedical and Biotechnological Sciences, Section of Human Anatomy and Histology, University of Catania, Catania, Italy.
authors.forename: Velia
authors.initials: V
authors.lastname: D'Agata
authors.affiliation: Institute of Neurological Sciences, Italian National Research Council, 87050, Piano Lago di Mangone, Cosenza, Calabria, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Cavalcanti
authors.affiliation: Institute of Neurological Sciences, Italian National Research Council, Via Paolo Gaifami 18, 95125, Catania, Sicily, Italy. sebastiano.cavallaro@cnr.it.|Institute of Neurological Sciences, Italian National Research Council, 87050, Piano Lago di Mangone, Cosenza, Calabria, Italy. sebastiano.cavallaro@cnr.it.
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Cavallaro
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001921:Brain / Q000378:metabolism*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D015513:Oncogene Proteins / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D033921:Vesicular Transport Proteins / Q000235:genetics; D051844:alpha-Synuclein / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases; D033921:Vesicular Transport Proteins; D051844:alpha-Synuclein; D000099202:PTEN-Induced Putative Kinase; C497604:SNCA protein, human; C419573:VPS35 protein, human; C111567:parkin protein; C495280:LRRK2 protein, human; C105131:PARK7 protein, human
keywords: Alternative splicing; PD genes; Parkinson’s disease; Protein isoforms; mRNA splice transcripts