Article

Progranulin deficiency results in reduced bis(monoacylglycero)phosphate (BMP) levels and gangliosidosis

2021-09-30

Abstract excerpt

<h4>SUMMARY</h4> Homozygous mutations of granulin precursor ( GRN ) lead to neuronal ceroid lipofuscinosis 1 , a severe neurodevelopmental disease, in humans and neuroinflammation in mice 2 . Haploinsufficiency of GRN almost invariably causes frontotemporal dementia (FTD) 3,4 . The GRN locus produces progranulin (PGRN), a lysosomal precursor protein that is cleaved to granulin peptides 5,6 . Despite intens...

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Literature Corpus work: b26bf1fc-2787-5ecd-8541-53a8e3e86b78
DOI: 10.1101/2021.09.30.461806

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