期刊论文详细信息
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 卷:1866
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
Review
Butz, Elisabeth S.1,2  Chandrachud, Uma1,2  Mole, Sara E.3,4  Cotman, Susan L.1,2 
[1] Massachusetts Gen Hosp, Res Inst, Ctr Genom Med, 185 Cambridge St, Boston, MA 02114 USA
[2] Massachusetts Gen Hosp, Res Inst, Dept Neurol, 185 Cambridge St, Boston, MA 02114 USA
[3] UCL, MRC Lab Mol Cell Biol, London WC1E 6BT, England
[4] UCL, UCL GOS Inst Child Hlth, London WC1E 6BT, England
关键词: Neuronal ceroid lipofuscinosis;    NCL;    Batten disease;    Autophagy;    Lysosomal storage disease;    Neurodegenerative disease;   
DOI  :  10.1016/j.bbadis.2019.165571
来源: Elsevier
PDF
【 摘 要 】

The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared clinical and pathological features, including seizures and progressive decline in vision, neurocognition, and motor functioning, as well as accumulation of autofluorescent lysosomal storage material, or 'ceroid lipofuscin'. Research has revealed thirteen distinct genetic subtypes. Precisely how the gene mutations lead to the clinical phenotype is still incompletely understood, but recent research progress is starting to shed light on disease mechanisms, in both gene-specific and shared pathways. As the application of new sequencing technologies to genetic disease diagnosis has grown, so too has the spectrum of clinical phenotypes caused by mutations in the NCL genes. Most genes causing NCL have probably been identified, underscoring the need for a shift towards applying genomics approaches to achieve a deeper understanding of the molecular basis of the NCLs and related disorders. Here, we summarize the current understanding of the thirteen identified NCL genes and the proteins they encode, touching upon the spectrum of clinical manifestations linked to each of the genes, and we highlight recent progress leading to a broader understanding of key pathways involved in NCL disease pathogenesis and commonalities with other neurodegenerative diseases.

【 授权许可】

Free   

【 预 览 】
附件列表
Files Size Format View
10_1016_j_bbadis_2019_165571.pdf 1373KB PDF download
  文献评价指标  
  下载次数:0次 浏览次数:0次