Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE NCL type 11 was first described in 2014 in two siblings as adult-onset NCL and was found to be due to a homozygous progranulin gene mutation. 30922528 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar degeneration (FTLD) and complete loss results in neuronal ceroid lipofuscinosis (NCL). 31291241 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Progranulin gene polymorphisms are linked to Alzheimer's disease (AD) and complete loss of function causes neuronal ceroid lipofuscinosis. 30696728 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Mutations in the GRN gene can lead to frontotemporal lobar degeneration (FTLD), a cause of dementia, and neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. 30862089 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Because homozygous mutations in MFSD8 cause neuronal ceroid lipofuscinosis (NCL), similar to homozygous mutations in GRN, we assessed rare variants in MFSD8 for relevance to FTLD through experimental follow-up studies. 30382371 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE AAV-mediated progranulin gene (GRN) delivery has been proposed as a treatment for GRN-deficient frontotemporal dementia and neuronal ceroid lipofuscinosis, and recent studies using intraparenchymal AAV-Grn delivery to brain have shown moderate success in histopathologic and behavioral rescue in mouse models. 30559071 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Individuals with loss-of-function mutations on both GRN alleles develop neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disorder. 30448285 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 AlteredExpression disease BEFREE However, the primary mechanism that causes impaired protein degradation and elevated CatD levels upon PGRN deficiency in NCL and FTLD remains unclear. 30180904 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE Here, we address these issues using an AAV vector (AAV-<i>Grn</i>) to deliver progranulin in <i>Grn</i><sup>-/-</sup> mice (both male and female), which model aspects of NCL and FTD pathology, developing lysosomal dysfunction, lipofuscinosis, and microgliosis. 29378861 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE However, growing evidence suggests a role for PGRN in the lysosome-most striking being that homozygous GRN mutation leads to neuronal ceroid lipofuscinosis, a lysosomal storage disease. 29744576 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Homozygous GRN mutation carriers develop neuronal ceroid lipofuscinosis (NCL), an earlier-onset lysosomal storage disorder caused by severe lysosomal dysfunction. 29929528 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE Thus, our data demonstrate a role of PGRN in PSAP lysosomal trafficking and suggest that impaired lysosomal trafficking of PSAP is an underlying disease mechanism for NCL and FTLD due to GRN mutations. 28541286 2017
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 AlteredExpression disease BEFREE In this study, we evaluated whether selective depletion of progranulin expression in myeloid-lineage cells, including microglia, causes NCL-like neuropathology or neuroinflammation in mice. 29149899 2017
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE Our findings indicate that progranulin haploinsufficiency caused accumulation of NCL-like storage material and early retinal abnormalities in humans and implicate lysosomal dysfunction as a central disease process in <i>GRN</i>-associated FTD and <i>GRN</i>-associated NCL. 28404863 2017
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE This functional relationship between PGRN and cathepsin D provides a possible explanation for overlapping NCL-like pathology observed in patients with mutations in PGRN or CTSD, the gene encoding cathepsin D. Together, our work identifies PGRN as an activator of lysosomal cathepsin D activity, and suggests that decreased cathepsin D activity due to loss of PGRN contributes to both FTD and NCL pathology in a dose-dependent manner. 29036611 2017
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice. 28647554 2017
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE Receptor-mediated lysosomal targeting has been shown to regulate brain PGRN levels, and complete deficiency of PGRN is a direct cause of neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. 28743268 2017
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the PGRN gene causes frontotemporal lobar degeneration accompanied by TDP-43 accumulation, and patients with homozygous mutations in the PGRN gene present with neuronal ceroid lipofuscinosis. 28073925 2017
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Furthermore, the strongest evidence for lysosomal impairment in FTD is provided by the progranulin (GRN) gene, which is linked to FTD and neuronal ceroid lipofuscinosis. 27166223 2016
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Collectively, our results provide new understanding on PGRN trafficking and shed light on the molecular mechanisms behind FTLD and NCL caused by PGRN mutations. 26370502 2015
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation. 24779634 2014
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE The present study shows that aged PGRN-deficient mice present with NCL-like pathology as well as TDP-43 aggregates in the VPM/VPL, where a particular vulnerability has been reported in NCL model mice. 25022663 2014
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 AlteredExpression disease BEFREE In line with a potential pathological overlap of FTLD and NCL, Ctsd(-/-) mice, a model for NCL, show elevated levels of the FTLD-associated proteins GRN and TMEM106B. 24619111 2014
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 GeneticVariation disease BEFREE Recently, homozygous GRN mutations were detected in two patients with neuronal ceroid lipofuscinosis, a lysosomal storage disease. 22859297 2012
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease BEFREE Reexamination of progranulin-deficient mice revealed rectilinear profiles typical of NCL. 22608501 2012