拓展庞贝病的治疗选择：一种新型糖原合酶1（GYS1）小分子抑制剂在庞贝病的临床前研究中显示出前景。 - Suppr

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超能文献

Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease.

作者信息

Koch Rebecca L, Cocanougher Benjamin T, Lim Jeong-A, Raben Nina, Kishnani Priya S

机构信息

Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.

M6P Therapeutics, St. Louis, MO, USA.

出版信息

Ann Transl Med. 2024 Dec 24;12(6):123. doi: 10.21037/atm-24-135. Epub 2024 Nov 15.

DOI:10.21037/atm-24-135

PMID:39817232

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11729804/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8bf2/11729804/ef75e7c2951c/atm-12-06-123-f1.jpg

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本文引用的文献

Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.小分子抑制糖原合酶 1 治疗庞贝病和其他糖原贮积症。

Sci Transl Med. 2024 Jan 17;16(730):eadf1691. doi: 10.1126/scitranslmed.adf1691.

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.婴儿起病庞贝病部分长期治疗儿童中严重中枢神经系统受累。

Mol Genet Metab. 2024 Feb;141(2):108119. doi: 10.1016/j.ymgme.2023.108119. Epub 2023 Dec 22.

Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.神经丝轻链及其与经典婴儿型庞贝病患者中枢神经系统受累的关系。

Neurology. 2023 Aug 8;101(6):e594-e601. doi: 10.1212/WNL.0000000000207482. Epub 2023 Jun 19.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.子宫内酶替代疗法治疗婴儿期起病庞贝病。

N Engl J Med. 2022 Dec 8;387(23):2150-2158. doi: 10.1056/NEJMoa2200587. Epub 2022 Nov 9.

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.庞贝病中溶酶体糖原积累导致细胞质糖原代谢紊乱。

J Inherit Metab Dis. 2023 Jan;46(1):101-115. doi: 10.1002/jimd.12560. Epub 2022 Oct 17.

Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate.人类糖原合酶通过磷酸化和葡萄糖-6-磷酸调节的分子基础。

Nat Struct Mol Biol. 2022 Jul;29(7):628-638. doi: 10.1038/s41594-022-00799-3. Epub 2022 Jul 14.

The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.人类糖原合成的 GYS1-GYG1 复合物的结构机制。

Cell Rep. 2022 Jul 5;40(1):111041. doi: 10.1016/j.celrep.2022.111041.

Mechanism of glycogen synthase inactivation and interaction with glycogenin.糖原合酶失活的机制及其与糖原粒蛋白的相互作用。

Nat Commun. 2022 Jun 11;13(1):3372. doi: 10.1038/s41467-022-31109-6.

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.通过新生儿筛查发现的 CRIM 阴性婴儿庞贝病的临床结局转化：酶替代治疗和免疫耐受诱导早期治疗的益处。

Genet Med. 2021 May;23(5):845-855. doi: 10.1038/s41436-020-01080-y. Epub 2021 Jan 25.

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