GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Mutations in progranulin (GRN) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal syndrome (CBS) and Alzheimer-type dementia (AD-type dementia). 30921613 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE We identified 9 potentially pathogenic mutations in the AD-causal genes APP, PSEN1, PSEN2, and 6 mutations in a group of non-AD dementia-causal genes including the FTD-causal gene GRN and the VaD-causal gene NOTCH3. 30954774 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE We investigated the levels in cerebrospinal fluid (CSF) of glial proteins YKL-40, soluble TREM2 (sTREM2) and progranulin in DLB and their relationship with Alzheimer's disease (AD) biomarkers. 31127154 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE These data provide valuable insights in understanding GRN-3's ability to modulate Aβ-induced toxicity under redox control and presents a new perspective toward AD pathology. 30782973 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 AlteredExpression disease BEFREE We provide a new comprehensive understanding of the genetic regulation of progranulin levels and identify potential targets to treat FTLD and other neurodegenerative diseases, including AD. 30696728 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE How microglial PGRN might be involved in AD and other neurodegenerative diseases will be discussed. 30862089 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Progranulin has received attention due to its role in neurodegeneration, where mutation of a single copy of GRN, the gene encoding progranulin, results in frontotemporal dementia, whereas viral delivery of progranulin to the brains of mice exhibiting Parkinson's or Alzheimer's disease phenotypes inhibits the progression of the neurodegenerative phenotypes. 29956265 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE CSF levels of routine AD biomarkers (phosphorylated tau (p-tau<sub>181</sub>), total tau (t-tau), and amyloid-beta (Aβ)<sub>1-42</sub>) and neurofilament proteins, as well as progranulin levels in both CSF and serum were quantified in definite FTLD (n = 46), clinical AD (n = 45), and cognitively healthy controls (n = 20). 29559004 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE In conclusion, we demonstrate that, although CSF PGRN is not a diagnostic biomarker for AD, it may together with sTREM2 reflect microglial activation during the disease. 30482868 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Missense mutations of GRN were also identified, but their effects are not completely clear, in particular unanswered is the question of what neuropathology they elicit, also considering that their occurrence has been reported in patients with typical clinical features of Alzheimer disease. 27997711 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Because the penetrance rate of the clinical phenotype of carriers of GRN mutations is age-dependent, further research is required to investigate the role of co-occurring age-related pathologies such as AD, PART, and cerebral small vessel disease. 29370838 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 AlteredExpression disease BEFREE Progranulin expression was 13% higher in AD and MCI patients compared with controls in the UCSF-MAC cohort (<i>F</i><sub>2,505</sub> = 10.41, <i>P</i> = 3.72*10<sup>-5</sup>). 29761124 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice. 28845019 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Alzheimer disease is due to increased amyloid-β coupled with low progranulin. 30336989 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Although CSF sTREM2 levels are not raised in FTD overall or in a particular clinical subtype of FTD, levels are raised in familial FTD associated with GRN mutations and in FTD syndromes due to AD pathology. 30111356 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration. 29614680 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454). 28189700 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 AlteredExpression disease BEFREE Here, we describe the application of PGRN gene transfer using in vivo delivery of lentiviral expression vectors in a transgenic mouse model of AD. 28837568 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Because cellular and animal data indicate that increasing PGRN can reverse phenotypes of both FTD and AD, modulating PGRN level has been proposed as a therapeutic strategy for both diseases. 28069809 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Defective lysosomal function defines many neurodegenerative diseases, such as neuronal ceroid lipofuscinoses (NCL) and Niemann-Pick type C (NPC), and is implicated in Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD-TDP) with progranulin (PGRN) deficiency. 28903038 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE While PGRN deficiency reduces these amyloidosis-related phenotypes, other neuronal injury mechanisms are increased by loss of PGRN, revealing a multidimensional interaction of GRN with AD. 28070672 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE We will report evidences that the Brain Derived Neurotrophic Factor (BDNF), the most investigated and characterized brain neurotrophin, progranulin, a multi-functional adipokine with trophic and growth factor properties, and cystatin C, a neuroprotective growth factor, are reduced in AD, FTD, and LBD. 29249935 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE The result of the meta-analysis supported T allele of rs5848 within GRN as a risk factor for AD. 26820675 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 AlteredExpression disease BEFREE However, alterations of central nervous progranulin expression also occur in neurodegenerative disorders unrelated to GRN mutations, such as Alzheimer's disease. 27760429 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE To better understand the role of PGRN and granulin (Grn) peptides in the pathogenesis of neurodegeneration, we evaluated PGRN/Grn in brains of patients with Alzheimer disease, FTLD-TDP type A with or without GRN mutations, and normal individuals, using a panel of monoclonal antibodies against Grn peptides A-G. 29044416 2017