期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 58, 期 1, 页码 39-43出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2014.08.008
关键词
Deglycosylation; Intellectual disability; Neuromotor defect; NGLY1; Whole-exome sequencing
资金
- Yale Program on Neurogenetics [RC2 NS070477]
- Yale Center for Mendelian Disorders [U54HG006504]
- Bertr and Might Research Fund
- Gregory M. Kiez and Mehmet Kutman Foundation
N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrophic lateral sclerosis and Parkinson's disease. Here, we describe two siblings with neuromotor impairment, apparent intellectual disability, corneal opacities, and neuropathy who were found to possess a novel homozygous frame-shift mutation due to a 4 base pair deletion in NGLY1 (c.1533_1536delTCAA. p.Asn511LysfsX51). We hypothesize that this mutation likely limits the capability of neuronal cells to respond to stress due to accumulation of misfolded proteins, thereby impairing their survival and resulting in progressive loss of neurological function. (C) 2014 Elsevier Masson SAS. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据