GRN

Summary

Gene Symbol: GRN
Description: granulin precursor
Alias: CLN11, GEP, GP88, PCDGF, PEPI, PGRN, granulins, PC cell-derived growth factor, acrogranin, granulin-epithelin, proepithelin, progranulin
Species: human
Products:     GRN

Top Publications

  1. Cheung S, Cheung P, Cheng C, Wong N, Fan S. Granulin-epithelin precursor and ATP-dependent binding cassette (ABC)B5 regulate liver cancer cell chemoresistance. Gastroenterology. 2011;140:344-55 pubmed publisher
    ..Gene expression profiling studies have shown that hepatic cancer cells express granulin-epithelin precursor (GEP); we investigated its role in hepatic cancer stem cell functions and chemoresistance...
  2. Fenoglio C, Galimberti D, Cortini F, Kauwe J, Cruchaga C, Venturelli E, et al. Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. J Alzheimers Dis. 2009;18:603-12 pubmed publisher
    Mutations in the progranulin gene (GRN), causative for Frontotemporal Lobar Degeneration with ubiquitin-immunoreactive neuronal inclusions (FTLD-U), could also be associated with Alzheimer's disease (AD)...
  3. Zhu J, Nathan C, Jin W, Sim D, Ashcroft G, Wahl S, et al. Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair. Cell. 2002;111:867-78 pubmed
    ..b>Proepithelin (PEPI), an epithelial growth factor, can be converted to epithelins (EPIs) in vivo by unknown mechanisms with ..
  4. Mesulam M, Johnson N, Krefft T, Gass J, Cannon A, Adamson J, et al. Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Arch Neurol. 2007;64:43-7 pubmed
    ..To describe progranulin gene mutations in 2 families with PPA. Report of affected families. Academic research...
  5. Kruger J, Kaivorinne A, Udd B, Majamaa K, Remes A. Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration. Eur J Neurol. 2009;16:27-30 pubmed publisher
    Mutations in the progranulin (PGRN) gene have recently been associated with frontotemporal lobar degeneration (FTLD). The frequency of these mutations varies between populations...
  6. Gijselinck I, Van der Zee J, Engelborghs S, Goossens D, Peeters K, Mattheijssens M, et al. Progranulin locus deletion in frontotemporal dementia. Hum Mutat. 2008;29:53-8 pubmed
    Ubiquitin-positive, tau-negative, frontotemporal dementia (FTD) is caused by null mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency mechanism...
  7. Alquezar C, Esteras N, Bartolomé F, Merino J, Alzualde A, Lopez de Munain A, et al. Alteration in cell cycle-related proteins in lymphoblasts from carriers of the c.709-1G>A PGRN mutation associated with FTLD-TDP dementia. Neurobiol Aging. 2012;33:429.e7-20 pubmed publisher
    ..containing TAR DNA binding protein 43 (TDP-43) is associated in most cases with null-mutations in the progranulin gene (PGRN)...
  8. Wang W, Wilfred B, Madathil S, Tang G, Hu Y, Dimayuga J, et al. miR-107 regulates granulin/progranulin with implications for traumatic brain injury and neurodegenerative disease. Am J Pathol. 2010;177:334-45 pubmed publisher
    Granulin (GRN, or progranulin) is a protein involved in wound repair, inflammation, and neoplasia. GRN has also been directly implicated in frontotemporal dementia and may contribute to Alzheimer's disease pathogenesis...
  9. Schofield E, Halliday G, Kwok J, Loy C, Double K, Hodges J. Low serum progranulin predicts the presence of mutations: a prospective study. J Alzheimers Dis. 2010;22:981-4 pubmed publisher
    Serum progranulin is decreased in frontotemporal dementia (FTD) patients with progranulin gene (PGRN) mutations. We investigate the utility of prospective serum screening as a surrogate diagnostic marker for progranulin mutations...

More Information

Publications120 found, 100 shown here

  1. Swamydas M, Nguyen D, Allen L, EDDY J, Dreau D. Progranulin stimulated by LPA promotes the migration of aggressive breast cancer cells. Cell Commun Adhes. 2011;18:119-30 pubmed publisher
    Activator and inhibitor roles for the 88-kDa-secreted glycoprotein progranulin (PGRN) have been demonstrated in ovarian cancer cells. Here, we investigated the effects of PGRN in breast cancer migration...
  2. Li L, Huang H, Ping J, Wang X, Zhong J, Dai L. Clinicopathologic and prognostic implications of progranulin in breast carcinoma. Chin Med J (Engl). 2011;124:2045-50 pubmed
    b>Progranulin is a newly discovered 88-kDa glycoprotein originally purified from the highly tumorigenic mouse teratoma-derived cell line PC. Its expression is closely correlated with the development and metastasis of several cancers...
  3. Bateman A, Belcourt D, Bennett H, Lazure C, Solomon S. Granulins, a novel class of peptide from leukocytes. Biochem Biophys Res Commun. 1990;173:1161-8 pubmed
    ..and characterization of a novel class of leukocyte peptides with possible cytokine-like activities which we call granulins. They are cystine-rich with molecular weights of approximately 6 Kda, except for granulin D, which appears to be ..
  4. Pizarro G, Zhou X, Koch A, Gharib M, Raval S, Bible K, et al. Prosurvival function of the granulin-epithelin precursor is important in tumor progression and chemoresponse. Int J Cancer. 2007;120:2339-43 pubmed
    The granulin-epithelin precursor (GEP/PCDGF), a 68-88 kDa secreted glycoprotein, has been shown to be an important growth and survival factor for ovarian cancer cells...
  5. Finch N, Carrasquillo M, Baker M, Rutherford N, Coppola G, DeJesus Hernandez M, et al. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology. 2011;76:467-74 pubmed publisher
    ..SNPs) are associated with frontotemporal lobar degeneration (FTLD) in patients with and without mutations in progranulin (GRN) and to determine whether TMEM106B modulates GRN expression...
  6. Mukherjee O, Pastor P, Cairns N, Chakraverty S, Kauwe J, Shears S, et al. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol. 2006;60:314-22 pubmed
    ..inclusions in the brain linked to 17q21-22 recently has been reported to carry null mutations in the progranulin gene (PGRN)...
  7. Beck J, Rohrer J, Campbell T, Isaacs A, Morrison K, Goodall E, et al. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain. 2008;131:706-20 pubmed publisher
    Mutations in the progranulin gene (GRN) are a major cause of frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing clinical and anatomical features of this subgroup remain ..
  8. Galimberti D, Fenoglio C, Cortini F, Serpente M, Venturelli E, Villa C, et al. GRN variability contributes to sporadic frontotemporal lobar degeneration. J Alzheimers Dis. 2010;19:171-7 pubmed publisher
    Mutations in the progranulin gene (GRN) are responsible for familial FTLD with ubiquitin pathology (FTLD-U). However, there are controversial data regarding the contribution of GRN variability to sporadic FTLD...
  9. Rovelet Lecrux A, Deramecourt V, Legallic S, Maurage C, Le Ber I, Brice A, et al. Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiol Dis. 2008;31:41-5 pubmed publisher
    b>Progranulin gene (PGRN) mutations cause ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17 (FTLDU-17)...
  10. Okura H, Yamashita S, Ohama T, Saga A, Yamamoto Kakuta A, Hamada Y, et al. HDL/apolipoprotein A-I binds to macrophage-derived progranulin and suppresses its conversion into proinflammatory granulins. J Atheroscler Thromb. 2010;17:568-77 pubmed
    ..monocyte-derived macrophages, we found an apo A-I binding protein and identified the protein as progranulin/proepithelin/acrogranin/PCDGF...
  11. Kim W, Serrero G. PC cell-derived growth factor stimulates proliferation and confers Trastuzumab resistance to Her-2-overexpressing breast cancer cells. Clin Cancer Res. 2006;12:4192-9 pubmed
    ..PC cell-derived growth factor (PCDGF/GP88) is an 88-kDa glycoprotein growth factor overexpressed in 80% invasive ductal carcinomas...
  12. Van Damme P, Van Hoecke A, Lambrechts D, Vanacker P, Bogaert E, van Swieten J, et al. Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J Cell Biol. 2008;181:37-41 pubmed publisher
    Recently, mutations in the progranulin (PGRN) gene were found to cause familial and apparently sporadic frontotemporal lobe dementia (FTLD)...
  13. Irwin D, Lippa C, Rosso A. Progranulin (PGRN) expression in ALS: an immunohistochemical study. J Neurol Sci. 2009;276:9-13 pubmed publisher
    Mutations in the gene progranulin (PGRN) were recently identified as the cause of some forms of frontotemporal dementia with ubiquitin-positive intraneuronal inclusion pathology (FTLD-U)...
  14. Borroni B, Archetti S, Alberici A, Agosti C, Gennarelli M, Bigni B, et al. Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. Neurogenetics. 2008;9:197-205 pubmed publisher
    ..It has been reported that mutations within progranulin (PGRN) gene are a major cause of FTLD in the USA and worldwide, counting for 5-10% of FTLD and for 20-25% of ..
  15. Gass J, Cannon A, Mackenzie I, Boeve B, Baker M, Adamson J, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet. 2006;15:2988-3001 pubmed
    Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative frontotemporal dementia linked to chromosome 17...
  16. Zhou J, Gao G, Crabb J, Serrero G. Purification of an autocrine growth factor homologous with mouse epithelin precursor from a highly tumorigenic cell line. J Biol Chem. 1993;268:10863-9 pubmed
    ..b>Granulins are small polypeptides purified from granulocyte extracts with no apparent biological functions...
  17. Mukherjee O, Wang J, Gitcho M, Chakraverty S, Taylor Reinwald L, Shears S, et al. Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. Hum Mutat. 2008;29:512-21 pubmed publisher
    ..characterized cases of FTLD-U with or without motor neuron disease (MND) were screened for mutations in the progranulin gene (GRN; also PGRN)...
  18. Antonell A, Gil S, Sanchez Valle R, Balasa M, Bosch B, Prat M, et al. Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort. J Alzheimers Dis. 2012;31:581-91 pubmed publisher
    b>Progranulin gene (GRN) mutations cause frontotemporal lobar degeneration (FTLD) with TDP43-positive inclusions, although its clinical phenotype is heterogeneous and includes patients classified as behavioral variant-FTLD (bvFTLD), ..
  19. Qu H, Deng H, Hu Z. Plasma progranulin concentrations are increased in patients with type 2 diabetes and obesity and correlated with insulin resistance. Mediators Inflamm. 2013;2013:360190 pubmed publisher
    ..In this study, we aim to investigate the concentrations of plasma progranulin in Chinese patients with obesity (OB) and type 2 diabetes mellitus (T2DM), and its relationship to IR...
  20. Bhandari V, Daniel R, Lim P, Bateman A. Structural and functional analysis of a promoter of the human granulin/epithelin gene. Biochem J. 1996;319 ( Pt 2):441-7 pubmed
    b>Granulins (grns) or epithelins (epis) are peptides with molecular masses of approx. 6 kDa that modulate the growth of cells...
  21. Monami G, Emiliozzi V, Bitto A, Lovat F, Xu S, Goldoni S, et al. Proepithelin regulates prostate cancer cell biology by promoting cell growth, migration, and anchorage-independent growth. Am J Pathol. 2009;174:1037-47 pubmed publisher
    The growth factor proepithelin has recently emerged as an important regulator of transformation in several physiological and pathological systems...
  22. Kojima Y, Ono K, Inoue K, Takagi Y, Kikuta K, Nishimura M, et al. Progranulin expression in advanced human atherosclerotic plaque. Atherosclerosis. 2009;206:102-8 pubmed publisher
    b>Progranulin (PGRN) is a unique growth factor that plays an important role in cutaneous wound healing. It has an anti-inflammatory effect and promotes cell proliferation...
  23. Wang J, Van Damme P, Cruchaga C, Gitcho M, Vidal J, Seijo Martinez M, et al. Pathogenic cysteine mutations affect progranulin function and production of mature granulins. J Neurochem. 2010;112:1305-15 pubmed publisher
    Frontotemporal dementia with ubiquitin-positive inclusions (FTLD-U) can be caused by mutations in the progranulin gene (GRN)...
  24. Carrasquillo M, Nicholson A, Finch N, Gibbs J, Baker M, Rutherford N, et al. Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet. 2010;87:890-7 pubmed publisher
    Recent studies suggest progranulin (GRN) is a neurotrophic factor...
  25. McDade E, Boeve B, Burrus T, Boot B, Kantarci K, Fields J, et al. Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin. Neurology. 2012;78:1245-9 pubmed publisher
    To report the phenotypic characterization of monozygotic twins with mutations encoding progranulin (PGRN). We studied a twin pair with an exon 4 gene deletion in the PGRN gene...
  26. Jasinska Myga B, Wider C, Opala G, Krygowska Wajs A, Barcikowska M, Czyzewski K, et al. GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease. Eur J Neurol. 2009;16:909-11 pubmed publisher
    A single nucleotide polymorphism in the 3'-untranslated region of the progranulin gene (GRN; 3'UTR+78C>T; rs5848) was reported to alter the risk for frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U)...
  27. Al Ayadhi L, Mostafa G. Low plasma progranulin levels in children with autism. J Neuroinflammation. 2011;8:111 pubmed publisher
    ..Local administration of recombinant progranulin, which is an anti-inflammatory neurotrophic factor, potently inhibit neutrophilic inflammation in vivo, ..
  28. Cenik B, Sephton C, Kutluk Cenik B, Herz J, Yu G. Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. J Biol Chem. 2012;287:32298-306 pubmed
    ..It is unknown whether the pathogenesis of these two conditions is related. Progranulin is cleaved into smaller peptides called granulins...
  29. van Swieten J, Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol. 2008;7:965-74 pubmed publisher
    ..Mutations in the gene that encodes progranulin (GRN) on chromosome 17q21-22 have been identified in patients with hereditary FTD who have tau-negative, ..
  30. Tang W, Lu Y, Tian Q, Zhang Y, Guo F, Liu G, et al. The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice. Science. 2011;332:478-84 pubmed publisher
    The growth factor progranulin (PGRN) has been implicated in embryonic development, tissue repair, tumorigenesis, and inflammation, but its receptors remain unidentified...
  31. Cheung P, Cheng C, Wong N, Ho J, Yip C, Lui V, et al. Granulin-epithelin precursor is an oncofetal protein defining hepatic cancer stem cells. PLoS ONE. 2011;6:e28246 pubmed publisher
    ..We have previously demonstrated that granulin-epithelin precursor (GEP), a pluripotent growth factor, is upregulated in HCC but not in the adjacent non-tumor, and that GEP is a potential ..
  32. Trinh D, Brown K, Jeang K. Epithelin/granulin growth factors: extracellular cofactors for HIV-1 and HIV-2 Tat proteins. Biochem Biophys Res Commun. 1999;256:299-306 pubmed publisher
  33. Cheung S, Wong S, Leung K, Chen X, So S, Ng I, et al. Granulin-epithelin precursor overexpression promotes growth and invasion of hepatocellular carcinoma. Clin Cancer Res. 2004;10:7629-36 pubmed
    Granulin-epithelin precursor (GEP) is a novel growth factor. Our earlier cDNA microarray study indicated that GEP was overexpressed in hepatocellular carcinoma (HCC)...
  34. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 2006;442:920-4 pubmed
    ..Here we demonstrate that FTDU-17 is caused by mutations in the gene coding for progranulin (PGRN), a growth factor involved in multiple physiological and pathological processes including tumorigenesis...
  35. Rademakers R, Eriksen J, Baker M, Robinson T, Ahmed Z, Lincoln S, et al. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet. 2008;17:3631-42 pubmed publisher
    Loss-of-function mutations in progranulin (GRN) cause ubiquitin- and TAR DNA-binding protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive neurodegenerative disease affecting approximately 10% of early-onset ..
  36. Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G. Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology. 2008;71:1235-9 pubmed publisher
    Mutations in the progranulin gene (PGRN) were identified as the causal mechanism underlying frontotemporal lobar degeneration (FTLD)...
  37. Moreno F, Indakoetxea B, Barandiaran M, Alzualde A, Gabilondo A, Estanga A, et al. "Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. Neurology. 2009;73:1367-74 pubmed publisher
    Mutations in the progranulin gene (PGRN) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal inclusions...
  38. Benussi L, Binetti G, Sina E, Gigola L, Bettecken T, Meitinger T, et al. A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging. 2008;29:427-35 pubmed
    ..173) to chromosome 17 and defined a candidate region containing MAPT and PGRN genes. Recombination analysis assigned two different disease haplotypes to FAM047 and FAM071...
  39. Kelley B, Haidar W, Boeve B, Baker M, Graff Radford N, Krefft T, et al. Prominent phenotypic variability associated with mutations in Progranulin. Neurobiol Aging. 2009;30:739-51 pubmed
    Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or without parkinsonism...
  40. Pickering Brown S, Rollinson S, Du Plessis D, Morrison K, Varma A, Richardson A, et al. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain. 2008;131:721-31 pubmed publisher
    ..MND), for whom genomic DNA was available, were investigated for the presence of mutations in tau (MAPT) and progranulin (PGRN) genes...
  41. Borroni B, Alberici A, Premi E, Archetti S, Garibotto V, Agosti C, et al. Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriers. Rejuvenation Res. 2008;11:585-95 pubmed publisher
    Mutations in the progranulin (PGRN) gene have been recently demonstrated as a cause of frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusion (FTD-U)...
  42. Sleegers K, Brouwers N, Van Broeckhoven C. Role of progranulin as a biomarker for Alzheimer's disease. Biomark Med. 2010;4:37-50 pubmed
    Serum or plasma progranulin (GRN) is a highly accurate of GRN-related frontotemporal lobar degeneration, which is caused by loss-of-function mutations in the GRN gene...
  43. Bagnoli S, Piaceri I, Tedde A, Piacentini S, Nannucci S, Bracco L, et al. Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy. Cell Mol Neurobiol. 2012;32:13-6 pubmed publisher
    Recently, mutations in the progranulin gene (GRN) were reported to account for the vast majority of Frontotemporal lobar Degeneration (FTLD) and a growing number of reports describe the implication of this gene in the development of the ..
  44. Nguyen A, Nguyen T, Cenik B, Yu G, Herz J, Walther T, et al. Secreted progranulin is a homodimer and is not a component of high density lipoproteins (HDL). J Biol Chem. 2013;288:8627-35 pubmed publisher
    b>Progranulin is a secreted glycoprotein, and the GRN gene is mutated in some cases of frontotemporal dementia. Progranulin has also been implicated in cell growth, wound healing, inflammation, and cancer...
  45. Serrero G, Ioffe O. Expression of PC-cell-derived growth factor in benign and malignant human breast epithelium. Hum Pathol. 2003;34:1148-54 pubmed
    PC-cell-derived growth factor (PCDGF, progranulin) is a novel autocrine growth factor that is overexpressed in human breast cancer cell lines...
  46. Shankaran S, Capell A, Hruscha A, Fellerer K, Neumann M, Schmid B, et al. Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J Biol Chem. 2008;283:1744-53 pubmed
    Loss of function mutations in progranulin cause tau-negative frontotemporal lobar degeneration with ubiquitin-positive inclusions...
  47. Chen Plotkin A, Xiao J, Geser F, Martinez Lage M, Grossman M, Unger T, et al. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. Acta Neuropathol. 2010;119:111-22 pubmed publisher
    ..b>Progranulin (GRN) gene mutations are pathogenic for FTLD-TDP, and GRN transcript haploinsufficiency is the proposed disease ..
  48. Koo D, Park C, Lee E, Ro J, Oh S. Progranulin as a prognostic biomarker for breast cancer recurrence in patients who had hormone receptor-positive tumors: a cohort study. PLoS ONE. 2012;7:e39880 pubmed publisher
    b>Progranulin (PGRN) is considered to play an important role in breast cancer tumorigenesis and in inhibiting tamoxifen-induced apoptosis...
  49. Baker M, Mackenzie I, Pickering Brown S, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006;442:916-9 pubmed
    ..Here we demonstrate that in these families, FTD is caused by mutations in progranulin (PGRN) that are likely to create null alleles. PGRN is located 1.7 Mb centromeric of MAPT on chromosome 17q21...
  50. Bronner I, Rizzu P, Seelaar H, van Mil S, Anar B, Azmani A, et al. Progranulin mutations in Dutch familial frontotemporal lobar degeneration. Eur J Hum Genet. 2007;15:369-74 pubmed
    Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21...
  51. Ahmed Z, Mackenzie I, Hutton M, Dickson D. Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation. 2007;4:7 pubmed
    b>Progranulin (PGRN) is a pleiotropic protein that has gained the attention of the neuroscience community with recent discoveries of mutations in the gene for PGRN that cause frontotemporal lobar degeneration (FTLD)...
  52. Bruni A, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, et al. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology. 2007;69:140-7 pubmed
    ..dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN)...
  53. Van Deerlin V, Wood E, Moore P, Yuan W, Forman M, Clark C, et al. Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. Arch Neurol. 2007;64:1148-53 pubmed
    Patients with frontotemporal dementia due to mutation of progranulin may have a distinct phenotype. To identify distinct clinical and pathologic features of patients with frontotemporal dementia who have mutations of progranulin (GRN)...
  54. Chen Plotkin A, Geser F, Plotkin J, Clark C, Kwong L, Yuan W, et al. Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration. Hum Mol Genet. 2008;17:1349-62 pubmed publisher
    ..pathway analyses, cluster and principal component analyses, and subgroup analyses based on brain region and progranulin (GRN) gene status...
  55. Ghetti B, Spina S, Murrell J, Huey E, Pietrini P, Sweeney B, et al. In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17. Neurodegener Dis. 2008;5:215-7 pubmed publisher
    ..17 (FTDP-17) is associated with mutations in the Microtubule-Associated Protein Tau(MAPT) gene or the Progranulin(PGRN) gene. MAPT mutations lead to widespread deposition of hyperphosphorylated tau protein (FTDP-17T)...
  56. Gijselinck I, Van Broeckhoven C, Cruts M. Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. Hum Mutat. 2008;29:1373-86 pubmed publisher
    Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as progranulin, PGRN), located at chromosome 17q21, were recently linked to tau-negative ubiquitin-positive frontotemporal lobar degeneration (FTLDU)...
  57. Cuevas Antonio R, Cancino C, Arechavaleta Velasco F, Andrade A, Barron L, Estrada I, et al. Expression of progranulin (Acrogranin/PCDGF/Granulin-Epithelin Precursor) in benign and malignant ovarian tumors and activation of MAPK signaling in ovarian cancer cell line. Cancer Invest. 2010;28:452-8 pubmed publisher
    It has been recently demonstrated that progranulin is overexpressed in ovarian cancer and that this protein is involved in the stimulation of cell proliferation, malignancy, and chemoresistance in ovarian cancer...
  58. Van Deerlin V, Sleiman P, Martinez Lage M, Chen Plotkin A, Wang L, Graff Radford N, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet. 2010;42:234-9 pubmed publisher
    ..FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin)...
  59. Cenik B, Sephton C, Dewey C, Xian X, Wei S, Yu K, et al. Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia. J Biol Chem. 2011;286:16101-8 pubmed publisher
    b>Progranulin (GRN) haploinsufficiency is a frequent cause of familial frontotemporal dementia, a currently untreatable progressive neurodegenerative disease...
  60. Bossù P, Salani F, Alberici A, Archetti S, Bellelli G, Galimberti D, et al. Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patients. J Neuroinflammation. 2011;8:65 pubmed publisher
    The progranulin gene (PGRN) encodes a pleiotropic molecule with anti-inflammatory actions and neuronal protective effects...
  61. Whitwell J, Weigand S, Boeve B, Senjem M, Gunter J, DeJesus Hernandez M, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. 2012;135:794-806 pubmed publisher
    ..other genes are known to account for familial frontotemporal dementia: microtubule-associated protein tau and progranulin. Although imaging features have been previously reported in subjects with mutations in tau and progranulin, no ..
  62. Lam C, Yip C, Poon T, Cheng C, Ng E, Wong N, et al. Identification and characterization of tropomyosin 3 associated with granulin-epithelin precursor in human hepatocellular carcinoma. PLoS ONE. 2012;7:e40324 pubmed publisher
    Granulin-epithelin precursor (GEP) has previously been reported to control cancer growth, invasion, chemo-resistance, and served as novel therapeutic target for cancer treatment...
  63. Schymick J, Yang Y, Andersen P, Vonsattel J, Greenway M, Momeni P, et al. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. J Neurol Neurosurg Psychiatry. 2007;78:754-6 pubmed
    Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD)...
  64. Leverenz J, Yu C, Montine T, Steinbart E, Bekris L, Zabetian C, et al. A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain. 2007;130:1360-74 pubmed
    Mutations in the progranulin (GRN) gene have recently been reported as a cause of the frontotemporal dementia (FTD) syndrome...
  65. Rademakers R, Baker M, Gass J, Adamson J, Huey E, Momeni P, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Lancet Neurol. 2007;6:857-68 pubmed
    The progranulin gene (GRN) is mutated in 5-10% of patients with frontotemporal lobar degeneration (FTLD) and in about 20% of patients with familial FTLD. The most common mutation in GRN is Arg493X...
  66. Sleegers K, Brouwers N, Maurer Stroh S, van Es M, Van Damme P, van Vught P, et al. Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology. 2008;71:253-9 pubmed publisher
    Null mutations in progranulin (PGRN) cause ubiquitin-positive frontotemporal dementia (FTD) linked to chromosome 17q21 (FTDU-17)...
  67. Brouwers N, Sleegers K, Engelborghs S, Maurer Stroh S, Gijselinck I, Van der Zee J, et al. Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology. 2008;71:656-64 pubmed publisher
    Loss-of-function mutations in the progranulin gene (PGRN) were identified in frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusions (FTLD-U)...
  68. Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain. 2009;132:583-91 pubmed publisher
    Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive pathology...
  69. Pietroboni A, Fumagalli G, Ghezzi L, Fenoglio C, Cortini F, Serpente M, et al. Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. J Alzheimers Dis. 2011;24:253-9 pubmed publisher
    The Asp22fs(g.63_64insC) mutation in progranulin gene (GRN) has been so far reported in one patient who developed frontotemporal dementia (FTD) at the age of 65...
  70. Capell A, Liebscher S, Fellerer K, Brouwers N, Willem M, Lammich S, et al. Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase. J Neurosci. 2011;31:1885-94 pubmed publisher
    Numerous loss-of-function mutations in the progranulin (GRN) gene cause frontotemporal lobar degeneration with ubiquitin and TAR-DNA binding protein 43-positive inclusions by reduced production and secretion of GRN...
  71. Wang H, Sun Y, Liu S, Yu H, Li W, Zeng J, et al. Upregulation of progranulin by Helicobacter pylori in human gastric epithelial cells via p38MAPK and MEK1/2 signaling pathway: role in epithelial cell proliferation and migration. FEMS Immunol Med Microbiol. 2011;63:82-92 pubmed publisher
    ..The growth factor progranulin (PGRN) is a secreted glycoprotein that functions as an important regulator of cell growth, migration, and ..
  72. Suh H, Choi N, Tarassishin L, Lee S. Regulation of progranulin expression in human microglia and proteolysis of progranulin by matrix metalloproteinase-12 (MMP-12). PLoS ONE. 2012;7:e35115 pubmed publisher
    The essential role of progranulin (PGRN) as a neurotrophic factor has been demonstrated by the discovery that haploinsufficiency due to GRN gene mutations causes frontotemporal lobar dementia...
  73. Yoo H, Hwang S, Hong H, Choi H, Yang S, Choi D, et al. Implication of progranulin and C1q/TNF-related protein-3 (CTRP3) on inflammation and atherosclerosis in subjects with or without metabolic syndrome. PLoS ONE. 2013;8:e55744 pubmed publisher
    b>Progranulin and C1q/TNF-related protein-3 (CTRP3) were recently discovered as novel adipokines which may link obesity with altered regulation of glucose metabolism, chronic inflammation and insulin resistance...
  74. He Z, Bateman A. Progranulin gene expression regulates epithelial cell growth and promotes tumor growth in vivo. Cancer Res. 1999;59:3222-9 pubmed
    b>Progranulin is a 593-amino acid glycoprotein, the mRNA of which is expressed by many epithelial cells both in vitro and in vivo, but the biological significance of this expression is unclear...
  75. Jones M, Michener C, Blanchette J, Kuznetsov V, Raffeld M, Serrero G, et al. The granulin-epithelin precursor/PC-cell-derived growth factor is a growth factor for epithelial ovarian cancer. Clin Cancer Res. 2003;9:44-51 pubmed
    ..The granulin-epithelin precursor [GEP/PC-cell derived growth factor (PCDGF)] was expressed only in the invasive ovarian cancer libraries (P < 0...
  76. Spina S, Murrell J, Huey E, Wassermann E, Pietrini P, Baraibar M, et al. Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. Neurology. 2007;68:820-7 pubmed
    ..Recently, mutations in Progranulin (PGRN), predicted to cause premature truncation of the PGRN coding sequence, were found in patients with ..
  77. Liu Y, Xi L, Liao G, Wang W, Tian X, Wang B, et al. Inhibition of PC cell-derived growth factor (PCDGF)/granulin-epithelin precursor (GEP) decreased cell proliferation and invasion through downregulation of cyclin D and CDK4 and inactivation of MMP-2. BMC Cancer. 2007;7:22 pubmed
    PC cell-derived growth factor (PCDGF), also called epithelin/granulin precursor (GEP), is an 88-kDa secreted glycoprotein with the ability to stimulate cell proliferation in an autocrine fashion...
  78. Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet Lecrux A, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain. 2008;131:732-46 pubmed publisher
    ..Since all the mutations cause a progranulin haploinsufficiency, additional factors probably explain the variable clinical presentation of the disease.
  79. Tolkatchev D, Malik S, Vinogradova A, Wang P, Chen Z, Xu P, et al. Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activities. Protein Sci. 2008;17:711-24 pubmed publisher
    b>Progranulin is a secreted protein with important functions in several physiological and pathological processes, such as embryonic development, host defense, and wound repair...
  80. Boeve B, Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol. 2008;65:460-4 pubmed publisher
    ..This conundrum was solved in 2006 with the identification of mutations in the gene encoding progranulin (PGRN; OMIM *138945), which is only 1.7 Mb centromeric to MAPT on chromosome 17...
  81. Rollinson S, Rohrer J, van der Zee J, Sleegers K, Mead S, Engelborghs S, et al. No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration. Neurobiol Aging. 2011;32:754-5 pubmed publisher
    ..It has been claimed that homozygosity of the SNP rs5848 located in the 3'UTR of progranulin increases risk for FTLD...
  82. Bai X, Wang D, Kong L, Zhang Y, Luan Y, Kobayashi T, et al. ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor. Mol Cell Biol. 2009;29:4201-19 pubmed publisher
    ..ADAMTS-7 associates with granulin-epithelin precursor (GEP), an autocrine growth factor that has been implicated in tissue regeneration, tumorigenesis, and inflammation...
  83. Rohrer J, Ridgway G, Modat M, Ourselin S, Mead S, Fox N, et al. Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. Neuroimage. 2010;53:1070-6 pubmed publisher
    ..Nine patients with progranulin (GRN) mutations and eleven patients with microtubule-associated protein tau (MAPT) mutations had T1 MR brain ..
  84. Hsiung G, Fok A, Feldman H, Rademakers R, Mackenzie I. rs5848 polymorphism and serum progranulin level. J Neurol Sci. 2011;300:28-32 pubmed publisher
    To assess the influence of rs5848 polymorphism in serum progranulin (PGRN) level in a cohort of subjects with Alzheimer and related dementias from a tertiary referral clinic...
  85. Cerami C, Marcone A, Galimberti D, Villa C, Scarpini E, Cappa S. From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder. J Alzheimers Dis. 2011;27:791-7 pubmed publisher
    ..Recently, the progranulin gene (GRN) was reported to be involved in the disease pathogenesis...
  86. Yilmaz Y, Eren F, Yonal O, Polat Z, Bacha M, Kurt R, et al. Serum progranulin as an independent marker of liver fibrosis in patients with biopsy-proven nonalcoholic fatty liver disease. Dis Markers. 2011;31:205-10 pubmed publisher
    Elevated progranulin levels are associated with visceral obesity, elevated plasma glucose, and dyslipidemia. Progranulin has not been previously investigated as a biomarker of nonalcoholic fatty liver disease (NAFLD)...
  87. Frampton G, Invernizzi P, Bernuzzi F, Pae H, Quinn M, Horvat D, et al. Interleukin-6-driven progranulin expression increases cholangiocarcinoma growth by an Akt-dependent mechanism. Gut. 2012;61:268-77 pubmed publisher
    Cholangiocarcinoma is a devastating cancer of biliary origin with limited treatment options. The growth factor, progranulin, is overexpressed in a number of tumours...
  88. Prudencio M, Jansen West K, Lee W, Gendron T, Zhang Y, Xu Y, et al. Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A. 2012;109:21510-5 pubmed publisher
    Sortilin 1 regulates the levels of brain progranulin (PGRN), a neurotrophic growth factor that, when deficient, is linked to cases of frontotemporal lobar degeneration with TAR DNA-binding protein-43 (TDP-43)-positive inclusions (FTLD-..
  89. Bhandari V, Bateman A. Structure and chromosomal location of the human granulin gene. Biochem Biophys Res Commun. 1992;188:57-63 pubmed
    b>Granulins are a family of cysteine rich polypeptides some of which have growth modulatory activity. We showed previously that the granulins are encoded within the same precursor consisting of seven granulin domains arranged in tandem...
  90. Bhandari V, Palfree R, Bateman A. Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains. Proc Natl Acad Sci U S A. 1992;89:1715-9 pubmed
    b>Granulins are candidate growth factors recently discovered in human and rat inflammatory leukocytes and bone marrow. Two granulin homologs, epithelin 1 and 2, occur in the rat kidney...
  91. Plowman G, Green J, Neubauer M, Buckley S, McDonald V, Todaro G, et al. The epithelin precursor encodes two proteins with opposing activities on epithelial cell growth. J Biol Chem. 1992;267:13073-8 pubmed
    ..The broad expression profile of epithelin transcripts, along with the opposing activities of the two mature protein products, implicates these factors as natural mediators of epithelial homeostasis. ..