Physiological importance of NGLY1, as revealed by rodent model analyses
Physiological importance of NGLY1, as revealed by rodent model analyses
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DOI：
10.1093/jb/mvab101
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发表时间：
2021-09-27
影响因子：
2.7
通讯作者：
Suzuki, Tadashi
中科院分区：
文献类型：
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作者：
Fujihira, Haruhiko;Asahina, Makoto;Suzuki, Tadashi
胞浆肽：N-聚糖酶（NGLY 1）是一种从已从内质网（ER）腔逆行转运至胞浆的糖蛋白中切割N-聚糖的酶。已知NGLY 1参与细胞溶质聚糖的降解（非溶酶体聚糖降解）以及ER相关降解（新合成糖蛋白的质量控制系统）。NGLY 1基因突变引起的NGLY 1缺陷导致的多系统症状的发现，引起了人们对NGLY 1在哺乳动物中生理功能的兴趣。使用各种动物模型的研究导致了对NGLY 1缺乏症发病机制的可能因素的鉴定。在这篇综述中，我们总结了表型的后果，已报告的各种NGLY 1缺陷啮齿动物模型，并讨论未来的前景，提供更多的见解NGLY 1的生理功能。
Cytosolic peptide:N-glycanase (NGLY1) is an enzyme that cleaves N-glycans from glycoproteins that has been retrotranslocated from the endoplasmic reticulum (ER) lumen into the cytosol. It is known that NGLY1 is involved in the degradation of cytosolic glycans (non-lysosomal glycan degradation) as well as ER-associated degradation, a quality control system for newly synthesized glycoproteins. The discovery of NGLY1 deficiency, which is caused by mutations in the human NGLY1 gene and results in multisystemic symptoms, has attracted interest in the physiological functions of NGLY1 in mammals. Studies using various animal models led to the identification of possible factors that contribute to the pathogenesis of NGLY1 deficiency. In this review, we summarize phenotypic consequences that have been reported for various Ngly1-deficient rodent models and discuss future perspectives to provide more insights into the physiological functions of NGLY1.