期刊论文详细信息
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 卷:1866
Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses
Review
Kline, Rachel A.3,4  Wishart, Thomas M.3,4  Mills, Kevin1,2  Heywood, Wendy E.1,2 
[1] UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Unit, Inborn Errors Metab Sect, 30 Guilford St, London WC1N 1EH, England
[2] Great Ormond St Hosp Sick Children, NIHR Great Ormond St Biomed Res Ctr, UCL Great Ormond St Inst Child Hlth, London, England
[3] Univ Edinburgh, Sch Vet Studies, Roslin Inst & Royal Dick, Edinburgh, Midlothian, Scotland
[4] Univ Edinburgh, Euan MacDonald Ctr Motor Neuron Dis Res, Edinburgh, Midlothian, Scotland
关键词: Neuronal Ceroid Lipofuscinoses;    Batten disease;    CLN1-14;    Proteomics;    Metabolomics;   
DOI  :  10.1016/j.bbadis.2019.06.012
来源: Elsevier
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【 摘 要 】

The Neuronal Ceroid Lipofuscinoses are a group of severe and progressive neurodegenerative disorders, which generally present during childhood. With new treatments emerging on the horizon, there is a growing need to understand the specific disease mechanisms as well as identify prospective biomarkers for use to stratify patients and monitor treatment. The use of Omics technologies to NCLs has the potential to address this need. We discuss the recent use and outcomes of Omics to various forms of NCL including identification of interactomes, affected biological pathways and potential biomarker candidates. We also identify common pathways affected in NCL across the reviewed studies.

【 授权许可】

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