CRISPR/Cas9技术在粘多糖病建模和治疗中的应用

IF 2.3 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Biochemistry and Biophysics Reports Pub Date : 2024-07-01 DOI:10.1016/j.bbrep.2024.101771

Mehran Reyhani-Ardabili, Soudeh Ghafouri-Fard

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引用次数: 0

摘要

粘多糖病（MPS）综合征是一组遗传基础和临床表现各异的遗传性疾病，从轻微到致命不等。目前有许多治疗 MPS 的应用或前瞻性方法，包括骨髓移植、酶替代疗法、靶向基因疗法和底物还原疗法。最近，CRISPR/Cas9 技术已成为治疗 MPS 等多种代谢性疾病的新型工具。本综述将集中讨论该技术在治疗 MPS（尤其是 MPS I）和致病突变建模中的应用。

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CRISPR/Cas9 technology in the modeling of and treatment of mucopolysaccharidosis

Mucopolysaccharidosis (MPS) syndromes are a group of heterogeneous genetic disorders in terms of genetic basis and clinical manifestations, ranging from mild to fatal forms. There are a number of applied or prospective treatment modalities for MPS, including bone marrow transplantation, enzyme replacement therapy, targeted gene therapy and substrate reduction therapy. Recently, CRISPR/Cas9 technology has emerged as a novel tool for several metabolic disorders, such as MPS. This review concentrates on the application of this technique in the treatment of MPS, particularly MPS I, and modeling of disease-causing mutations.

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来源期刊

Biochemistry and Biophysics Reports Biochemistry, Genetics and Molecular Biology-Biophysics

CiteScore

4.60

自引率

0.00%

发文量

191

审稿时长

59 days

期刊介绍： Open access, online only, peer-reviewed international journal in the Life Sciences, established in 2014 Biochemistry and Biophysics Reports (BB Reports) publishes original research in all aspects of Biochemistry, Biophysics and related areas like Molecular and Cell Biology. BB Reports welcomes solid though more preliminary, descriptive and small scale results if they have the potential to stimulate and/or contribute to future research, leading to new insights or hypothesis. Primary criteria for acceptance is that the work is original, scientifically and technically sound and provides valuable knowledge to life sciences research. We strongly believe all results deserve to be published and documented for the advancement of science. BB Reports specifically appreciates receiving reports on: Negative results, Replication studies, Reanalysis of previous datasets.