庞贝病：从基础科学到治疗。
Pompe Disease: From Basic Science to Therapy.
机构信息
Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
出版信息
Neurotherapeutics. 2018 Oct;15(4):928-942. doi: 10.1007/s13311-018-0655-y.
Abstract
Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find a cure. However, both sides would agree that many findings in basic science-such as the Nobel prize-winning discoveries of glycogen metabolism, the lysosome, and autophagy-have become the foundation of our understanding of Pompe disease. The disease is a glycogen storage disorder, a lysosomal disorder, and an autophagic myopathy. In this review, we will discuss how these past discoveries have guided Pompe research and impacted recent therapeutic developments.
摘要
庞贝病是一种罕见且致命的肌肉疾病。作为一种临床实体，这种疾病已经存在了超过 75 年。虽然乐观主义者可能会对这段时间取得的进展感到兴奋，但悲观主义者会指出，我们还没有找到治愈方法。然而，双方都会同意，基础科学的许多发现——如糖原代谢、溶酶体和自噬的诺贝尔奖发现——已经成为我们理解庞贝病的基础。这种疾病是一种糖原贮积病、溶酶体贮积病和自噬性肌病。在这篇综述中，我们将讨论这些过去的发现如何指导庞贝病的研究，并影响最近的治疗进展。
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本文引用的文献
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Lysosomal Targeting Enhancement by Conjugation of Glycopeptides Containing Mannose-6-phosphate Glycans Derived from Glyco-engineered Yeast.糖基工程酵母衍生的甘露糖-6-磷酸糖肽缀合物增强溶酶体靶向性。
Sci Rep. 2018 Jun 7;8(1):8730. doi: 10.1038/s41598-018-26913-4.
2
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.经典婴儿型庞贝病患者接近成年期：一项关于大脑后果的队列研究。
Dev Med Child Neurol. 2018 Jun;60(6):579-586. doi: 10.1111/dmcn.13740. Epub 2018 Mar 24.
3
Immunomodulatory, liver depot gene therapy for Pompe disease.免疫调节的、肝脏储存基因疗法治疗庞贝病。
Cell Immunol. 2019 Aug;342:103737. doi: 10.1016/j.cellimm.2017.12.011. Epub 2017 Dec 29.
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Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.腺相关病毒介导的肝递送可分泌酸性α-葡萄糖苷酶拯救庞贝病小鼠。
Sci Transl Med. 2017 Nov 29;9(418). doi: 10.1126/scitranslmed.aam6375.
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Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.各种疾病谱中确诊新生儿筛查患者庞贝病的管理。
Pediatrics. 2017 Jul;140(Suppl 1):S24-S45. doi: 10.1542/peds.2016-0280E.
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The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.新生儿筛查阳性后患者的初始评估：推荐明确诊断庞贝病的确诊算法。
Pediatrics. 2017 Jul;140(Suppl 1):S14-S23. doi: 10.1542/peds.2016-0280D.
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Newborn Screening for Pompe Disease.新生儿庞贝氏病筛查。
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AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.腺相关病毒（AAV）介导的转录因子 EB（TFEB）基因传递可改善庞贝病小鼠模型中的肌肉病理和功能。
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