巴顿病
神经元蜡样脂褐素沉着症
组学
计算生物学
疾病
生物
转录组
神经科学
痴呆
生物信息学
基因
医学
遗传学
基因表达
病理
作者
Nicola Gammaldi,Francesco Pezzini,Elena Michelucci,Nicoletta Di Giorgi,Alessandro Simonati,Silvia Rocchiccioli,Filippo M. Santorelli,Stefano Doccini
标识
DOI:10.1016/j.nbd.2023.106349
摘要
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders whose molecular mechanisms remain largely unknown. Omics approaches are among the methods that generate new information on modifying factors and molecular signatures. Moreover, omics data integration can address the need to progressively expand knowledge around the disease and pinpoint specific proteins to promote as candidate biomarkers. In this work, we integrated a total of 62 proteomic and transcriptomic datasets originating from humans and mice, employing a new approach able to define dysregulated processes across species, stages and NCL forms. Moreover, we selected a pool of differentially expressed proteins and genes as species- and form-related biomarkers of disease status/progression and evaluated local and spatial differences in most affected brain regions. Our results offer promising targets for potential new therapeutic strategies and reinforce the hypothesis of a connection between NCLs and other forms of dementia, particularly Alzheimer's disease.
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