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Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides

Frontotemporal dementia (FTD) is an early onset dementia characterized by progressive atrophy of the frontal and/or temporal lobes. FTD is highly heritable with mutations in progranulin accounting for 5–26% of cases in different populations. Progranulin is involved in endocytosis, secretion and lyso...

詳細記述

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書誌詳細
出版年:Hum Mol Genet
主要な著者: Kuang, Lisha, Hashimoto, Kei, Huang, Eric J, Gentry, Matthew S, Zhu, Haining
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7068117/
https://ncbi.nlm.nih.gov/pubmed/31913476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz280
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