Results 21 to 30 of about 11,442 (213)
Reply: "PGRN Manifesting as Parkinson's Disease: Counseling and Treatment Implications". [PDF]
Mov Disord Clin PractMovement Disorders Clinical Practice, Volume 13, Issue 2, Page 585-586, February 2026.
Antonini A, Bonato G, Carecchio M.
europepmc +2 more sources
Novel progranulin variants do not disrupt progranulin secretion and cleavage [PDF]
Neurobiology of Aging, 2013 A subset of frontotemporal dementia cases are neuropathologically defined by tau-negative, TAR DNA-binding protein-43, and ubiquitin-positive inclusions in the brain and are associated with mutations in the progranulin gene (GRN). Deep sequencing of families exhibiting late-onset dementia revealed several novel variants in GRN.
Celeste M, Karch +4 more
openaire +2 more sources
Intensive Care Medicine Experimental, 2021 Background Progranulin is a widely expressed pleiotropic growth factor with a central regulatory effect during the early immune response in sepsis. Progranulin signaling has not been systematically studied and compared between sepsis, community-acquired ...
Florian Brandes +20 more
doaj +1 more source
Lysosomal processing of progranulin [PDF]
Molecular Neurodegeneration, 2017 Mutations resulting in progranulin (PGRN) haploinsufficiency cause frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), a devastating neurodegenerative disease. PGRN is localized to the lysosome and important for proper lysosome function. However, the metabolism of PGRN in the lysosome is still unclear.Here, we report that PGRN
Xiaolai Zhou +5 more
openaire +3 more sources
Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency [PDF]
Human Molecular Genetics, 2013 Progranulin (GRN) mutations causing haploinsufficiency are a major cause of frontotemporal lobar degeneration (FTLD-TDP). Recent discoveries demonstrating sortilin (SORT1) is a neuronal receptor for PGRN endocytosis and a determinant of plasma PGRN levels portend the development of enhancers targeting the SORT1-PGRN axis. We demonstrate the preclinical
Lee, Wing C. +16 more
openaire +2 more sources
PLoS ONE, 2011 Progranulin haplo-insufficiency is a main cause of frontotemporal lobar degeneration (FTLD) with TDP-43 aggregates. Previous studies have shown that sortilin regulates progranulin trafficking and is a main determinant of progranulin level in the brain ...
Yanqiu Zheng +4 more
doaj +1 more source
Progranulin Resolves Inflammation [PDF]
Science, 2011 A molecule binds to a cytokine receptor and limits the cytokine from eliciting inflammatory responses by immune cells.
Hao Wu, Richard M. Siegel
openaire +1 more source
Age- and stress-associated C. elegans granulins impair lysosomal function and induce a compensatory HLH-30/TFEB transcriptional response. [PDF]
, 2019 The progressive failure of protein homeostasis is a hallmark of aging and a common feature in neurodegenerative disease. As the enzymes executing the final stages of autophagy, lysosomal proteases are key contributors to the maintenance of protein ...
Ashrafi, Kaveh +10 more
core +1 more source
Neurobiology of Disease, 2019 Loss-of-function mutations in progranulin (GRN), most of which cause progranulin haploinsufficiency, are a major autosomal dominant cause of frontotemporal dementia (FTD).
Andrew E. Arrant +8 more
doaj +1 more source
Adeno‐associated virus serotype 1‐based gene therapy for FTD caused by GRN mutations
Annals of Clinical and Translational Neurology, 2020 Objective Dominant loss‐of‐function mutations in the gene encoding the lysosomal protein, progranulin, cause 5‐10% of frontotemporal dementia cases. As progranulin undergoes secretion and endocytosis, a small number of progranulin‐expressing cells can ...
Christian Hinderer +6 more
doaj +1 more source