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Splicing: is there an alternative contribution to Parkinson’s disease?
TLDR
An updated overview on the impact of alternative splicing in Parkinson’s disease (PD) is provided and the role of this mechanism on PD pathobiology may represent a central step toward an improved understanding of this complex disease. Expand
PACAP and PAC1R are differentially expressed in motor cortex of amyotrophic lateral sclerosis patients and support survival of iPSC‐derived motor neurons
TLDR
P perturbations in the PACAP‐PAC1R pathway may be involved in ALS pathology and represent a potential drug target to enhance motor neuron viability, according to the results of the transcriptome experiments. Expand
Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach
TLDR
Assessing the global genome-wide burden of CNVs in PD patients may reveal new disease-related molecular mechanisms, and open the window to a new possible genetic scenario in the unsolved PD puzzle. Expand
Dental mesenchymal stem cells and neuro-regeneration: a focus on spinal cord injury
TLDR
The present review will provide an overview of hDPSCs and related features with a special focus on their potential applications in regenerative medicine of the nervous system, such as after spinal cord injury. Expand
Highlights on Genomics Applications for Lysosomal Storage Diseases
TLDR
An overview of LSD diagnostic process and treatment strategies is reported, an update on the worldwide NBS programs is provided, and the opportunities and challenges arising from genomics applications in screening, diagnosis, and research are discussed. Expand
Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions
TLDR
A substantial number of genes displayed significant expression changes in tissue types or disease states, were implicated in distinct splicing complexes and showed different topological hierarchical roles based on protein–protein interactions. Expand
NAP counteracts hyperglycemia/hypoxia induced retinal pigment epithelial barrier breakdown through modulation of HIFs and VEGF expression
TLDR
The results have shown that NAP prevents outer BRB breakdown by reducing HIF1α/HIF2α, VEGF/VEGFRs, and increasing HIF3α expression, moreover it is able to reduce the percentage of apoptotic cells by modulating the expression of two death related genes, BAX and Bcl2. Expand
Caffeine Prevents Blood Retinal Barrier Damage in a Model, In Vitro, of Diabetic Macular Edema
TLDR
It is demonstrated that caffeine is able to prevent outer BRB damage by inhibiting apoptotic cell death induced by hyperglycemic/hypoxic insult since it downregulate the proapoptotic Bax and upregulates the anti‐apoptosis Bcl‐2 genes. Expand
Alternative Splicing Generates Different Parkin Protein Isoforms: Evidences in Human, Rat, and Mouse Brain
TLDR
Analysis of the expression patterns of multiple parkin isoforms in the brain might account for the different pathogenetic effects linked to PARK2 gene mutations. Expand
Nicotine promotes blood retinal barrier damage in a model of human diabetic macular edema.
TLDR
The results have demonstrated that this compound alters outer BRB integrity exposed to high glucose and low oxygen pressure microenvironment by upregulating HIF-1α/HIF-2α, VEGF expression and ERK1/2 phosphorylation, suggesting that NT may play a negative role in active smokers affected by DME. Expand
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