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溶酶体贮积症的分子机制:从发病机制到治疗策略

Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies.

作者信息

De Pasquale Valeria, Scarcella Melania, Pavone Luigi Michele

机构信息

Department of Veterinary Medicine and Animal Productions, University of Naples Federico II, Via F. Delpino 1, 80127 Naples, Italy.

Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy.

出版信息

Biomedicines. 2022 Apr 17;10(4):922. doi: 10.3390/biomedicines10040922.

Abstract

Lysosomal storage diseases (LSDs) are a group of metabolic diseases caused by inborn mutations of lysosomal enzymes, which lead to lysosome substrate accumulation in various cell types [...].

摘要

溶酶体贮积症(LSDs)是一组由溶酶体酶的先天性突变引起的代谢性疾病,这些突变导致溶酶体底物在各种细胞类型中积累[...]。

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