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Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides

21 Nov 2019

Abstract excerpt

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 lysosomal processes, but its functions under physiological and pathological conditions remains to be defined. Many...

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PMID: 31913476
DOI: 10.1093/hmg/ddz280

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