Tracing the NGLY1 footprints: insights from Drosophila.
Tracing the NGLY1 footprints: insights from Drosophila.
复制标题
追踪 NGLY1 足迹：来自果蝇的见解。
DOI：
10.1093/jb/mvab084
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发表时间：
2022
影响因子：
2.7
通讯作者：
Jafar-Nejad,Hamed
中科院分区：
文献类型：
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作者：
Pandey,Ashutosh;Jafar-Nejad,Hamed
人类N-聚糖酶1（NGLY 1）的隐性突变可导致多种表型的多系统疾病，包括全面发育迟缓。用于理解NGLY 1的生物学和NGLY 1缺乏的病理生理学的模型之一是黑腹果蝇（Drosophila melanogaster），黑腹果蝇是广泛用于研究各种生物过程和人类疾病的成熟的、遗传上易处理的生物体。果蝇NGLY 1同源基因（Pngl）的缺失导致了包括发育迟缓和致死在内的一系列表型。对果蝇的表型、转录组和全基因组关联分析揭示了NGLY 1与几个关键的发育和细胞途径/过程之间的联系。此外，食品和药物管理局（FDA）批准的药物的再利用筛选已经确定了改善一些Pngl突变表型的潜在候选物。在这里，我们将总结从果蝇的研究中获得的见解NGLY 1的功能。我们希望目前的综述文章将鼓励更多的研究在果蝇和其他模型系统建立一个治疗策略NGLY 1缺乏症患者。
Recessive mutations in humanN-glycanase 1 (NGLY1) cause a multisystem disorder with various phenotypes including global developmental delay. One of the models utilized to understand the biology of NGLY1 and the pathophysiology of NGLY1 deficiency isDrosophila melanogaster, a well-established, genetically tractable organism broadly used to study various biological processes and human diseases. Loss of theDrosophila NGLY1homolog (Pngl) causes a host of phenotypes including developmental delay and lethality. Phenotypic, transcriptomic and genome-wide association analyses onDrosophilahave revealed links between NGLY1 and several critical developmental and cellular pathways/processes. Further, repurposing screens of Food and Drug Administration (FDA)-approved drugs have identified potential candidates to ameliorate some of thePngl-mutant phenotypes. Here, we will summarize the insights gained into the functions of NGLY1 fromDrosophilastudies. We hope that the current review article will encourage additional studies inDrosophilaand other model systems towards establishing a therapeutic strategy for NGLY1 deficiency patients.