Article
Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations.
Acta neuropathologica communications - 7 Oct 2020
Huang Meixiang, Modeste Erica, Dammer Eric, Merino Paola, Taylor Georgia, Duong Duc M, Deng Qiudong, Holler Christopher J, Gearing Marla, Dickson Dennis, Seyfried Nicholas T, Kukar Thomas
Abstract excerpt
Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin (PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN mutations cause neuronal ceroid lipofuscinosis-11 (CLN11), a lysosome storage disease. PGRN is a secreted glycoprotein that can be proteolytically cleaved into seven bioactive 6 kDa granulins. However, it is unclear how deficiency of PGRN and granulins...
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