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
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
Effects of Exercise on Progranulin Levels and Gliosis in Progranulin-Insufficient Mice [PDF]
eneuro, 2015 AbstractLoss-of-function mutations in progranulin (GRN) are one of the most common genetic causes of frontotemporal dementia (FTD), a progressive, fatal neurodegenerative disorder with no available disease-modifying treatments. Through haploinsufficiency, these mutations reduce levels of progranulin, a protein that has neurotrophic and anti ...
Andrew E. Arrant +2 more
openaire +2 more sources
Learning and memory with neuropathic pain : impact of old age and progranulin deficiency [PDF]
, 2013 Persistent neuropathic pain is a frequent consequence of peripheral nerve injuries, particularly in the elderly. Using the IntelliCage we studied if sciatic nerve injury obstructed learning and memory in young and aged mice, each in wild type and ...
Irmgard eTegeder +16 more
core +1 more source
Progranulin contributes to endogenous mechanisms of pain defense after nerve injury in mice [PDF]
, 2012 Progranulin haploinsufficiency is associated with frontotemporal dementia in humans. Deficiency of progranulin led to exaggerated inflammation and premature aging in mice.
Annett Häussler +11 more
core +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
Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins. [PDF]
PLoS ONE, 2011 The reduced production or activity of the cysteine-rich glycoprotein progranulin is responsible for about 20% of cases of familial frontotemporal dementia.
Sandra Almeida +2 more
doaj +1 more source
Progranulin is expressed within motor neurons and promotes neuronal cell survival
BMC Neuroscience, 2009 Background Progranulin is a secreted high molecular weight growth factor bearing seven and one half copies of the cysteine-rich granulin-epithelin motif.
Kay Denis G +11 more
doaj +1 more source
Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases : a multicenter Italian study [PDF]
, 2012 Background: Recently, attention was drawn to a role for progranulin in the central nervous system with the identification of mutations in the progranulin gene (GRN) as an important cause of frontotemporal lobar degeneration.
E. Piccoli +15 more
core +3 more sources