Dem-Aging:自噬相关病理和 "痴呆症的两面性"。

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY
Neurogenetics Pub Date : 2024-01-01 Epub Date: 2023-12-20 DOI:10.1007/s10048-023-00739-3
N Gammaldi, S Doccini, S Bernardi, M Marchese, M Cecchini, R Ceravolo, S Rapposelli, G M Ratto, S Rocchiccioli, F Pezzini, F M Santorelli
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引用次数: 0

摘要

神经细胞类脂膜脂质沉着病(NCL)是一个总称,指最常见的儿童期神经退行性疾病,也是儿童痴呆症的主要病因。尽管 NCLs 的分子机制仍然难以捉摸,但越来越多的证据表明,这些疾病具有共同的发病途径和共同的临床特征。DEM-AGING项目旨在确定NCL的分子特征,加快生物标志物的发现,从而确定用于监测疾病状态和进展的新靶点,并加快该领域临床试验的准备工作。在这项研究中,我们将已建立的 NCL 模型中的多组学评估与更常见的晚发性神经退行性疾病的类似数据进行了融合,以检验对潜在病理机制至关重要的共享分子指纹假设。我们的最终目标是将数据分析、细胞模型和 omic 策略结合起来,努力追踪可随时应用于最常见形式痴呆症的新疗法路线。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Dem-Aging: autophagy-related pathologies and the "two faces of dementia".

Dem-Aging: autophagy-related pathologies and the "two faces of dementia".

Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent childhood-onset neurodegenerative diseases, which are also the main cause of childhood dementia. Although the molecular mechanisms underlying the NCLs remain elusive, evidence is increasingly pointing to shared disease pathways and common clinical features across the disease forms. The characterization of pathological mechanisms, disease modifiers, and biomarkers might facilitate the development of treatment strategies.The DEM-AGING project aims to define molecular signatures in NCL and expedite biomarker discovery with a view to identifying novel targets for monitoring disease status and progression and accelerating clinical trial readiness in this field. In this study, we fused multiomic assessments in established NCL models with similar data on the more common late-onset neurodegenerative conditions in order to test the hypothesis of shared molecular fingerprints critical to the underlying pathological mechanisms. Our aim, ultimately, is to combine data analysis, cell models, and omic strategies in an effort to trace new routes to therapies that might readily be applied in the most common forms of dementia.

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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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