Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease.

Francesca Paron,Andrea Dardis,Emanuele Buratti

Journal of Biotechnology（2020）

引用 3|浏览5

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摘要

•Overview of Niemann-Pick type C: clinical and molecular description.•Niemann-Pick Type C disease from a neurodegenerative point of view.•RNA-binding protein and RNA metabolism involvement in neurological features of Niemann-Pick Type C.•Possible therapeutic strategies based on RNA processing pathways in order to recover the neurological phenotype.

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关键词

Niemann-Pick type C,RNA-metabolism,RNA-binding proteins,RNA-processing events,Neurodegeneration,Therapeutic strategies

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