Article
Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.
Molecular neurodegeneration - 22 Jun 2018
Arrant Andrew E, Nicholson Alexandra M, Zhou Xiaolai, Rademakers Rosa, Roberson Erik D
Abstract excerpt
BACKGROUND: Loss of function mutations in progranulin (GRN) are a major cause of frontotemporal dementia (FTD). Progranulin is a secreted glycoprotein that localizes to lysosomes and is critical for proper lysosomal function. Heterozygous GRN mutation carriers develop FTD with TDP-43 pathology and exhibit signs of lysosomal dysfunction in the brain, with increased levels of lysosomal proteins and lipofuscin...
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