| Literature DB >> 22859297 |
Basar Cenik1, Chantelle F Sephton, Bercin Kutluk Cenik, Joachim Herz, Gang Yu.
Abstract
GRN mutations cause frontotemporal lobar degeneration with TDP-43-positive inclusions. The mechanism of pathogenesis is haploinsufficiency. Recently, homozygous GRN mutations were detected in two patients with neuronal ceroid lipofuscinosis, a lysosomal storage disease. It is unknown whether the pathogenesis of these two conditions is related. Progranulin is cleaved into smaller peptides called granulins. Progranulin and granulins are attributed with roles in cancer, inflammation, and neuronal physiology. Cell surface receptors for progranulin, but not granulin peptides, have been reported. Revealing the cell surface receptors and the intracellular functions of granulins and progranulin is crucial for understanding their contributions to neurodegeneration.Entities:
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Year: 2012 PMID: 22859297 PMCID: PMC3463300 DOI: 10.1074/jbc.R112.399170
Source DB: PubMed Journal: J Biol Chem ISSN: 0021-9258 Impact factor: 5.157