Role of Progranulin as a Biomarker for Alzheimer's Disease

• Blennow K , ZetterbergH: Cerebrospinal fluid biomarkers for Alzheimer's disease.J. Alzheimers Dis.18(2) , 413–417 (2009).
   PubMed Web of Science ®Google Scholar
• Hye A , LynhamS, ThambisettyM et al.: Proteome-based plasma biomarkers for Alzheimer's disease.Brain129(Pt 11) , 3042–3050 (2006).
   PubMed Web of Science ®Google Scholar
• Roher AE , MaaroufCL, SueLI, HuY, WilsonJ, BeachTG: Proteomics-derived cerebrospinal fluid markers of autopsy-confirmed Alzheimer's disease.Biomarkers14(7) , 493–501 (2009).
   PubMed Web of Science ®Google Scholar
• Cruts M , GijselinckI, vander Zee Jet al.: Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature442(7105) , 920–924 (2006).
   PubMed Web of Science ®Google Scholar
• Baker M , MackenzieIR, Pickering-BrownSM et al.: Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.Nature442(7105) , 916–919 (2006).
   PubMed Web of Science ®Google Scholar
• Brouwers N , NuytemansK, vander Zee Jet al.: Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. Arch. Neurol.64(10) , 1436–1446 (2007).
   PubMedGoogle Scholar
• Le Ber I , CamuzatA, HannequinD et al.: Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.Brain131(Pt 3) , 732–746 (2008).
   PubMed Web of Science ®Google Scholar
• Kelley BJ , HaidarW, BoeveBF et al.: Prominent phenotypic variability associated with mutations in progranulin.Neurobiol. Aging30(5) , 739–751 (2009).
   PubMed Web of Science ®Google Scholar
• Rademakers R , BakerM, GassJ et al.: Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C–>T (Arg493X) mutation: an international initiative.Lancet Neurol.6(10) , 857–868 (2007).
   PubMed Web of Science ®Google Scholar
• Bhandari V , PalfreeRG, BatemanA: Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains.Proc. Natl Aad. Sci. USA89(5) , 1715–1719 1992).
   PubMed Web of Science ®Google Scholar
• Plowman GD , GreenJM, NeubauerMG et al.: The epithelin precursor encodes two proteins with opposing activities on epithelial cell growth.J. Biol. Chem.267(18) , 13073–13078 1992).
   PubMed Web of Science ®Google Scholar
• Anakwe OO , GertonGL: Acrosome biogenesis begins during meiosis: evidence from the synthesis and distribution of an acrosomal glycoprotein, acrogranin, during guinea pig spermatogenesis.Biol. Reprod.42(2) , 317–328 1990).
   PubMed Web of Science ®Google Scholar
• Zhou J , GaoG, CrabbJW, SerreroG: Purification of an autocrine growth factor homologous with mouse epithelin precursor from a highly tumorigenic cell line.J. Biol. Chem.268(15) , 10863–10869 1993).
   PubMed Web of Science ®Google Scholar
• Xu SQ , TangD, ChamberlainS et al.: The granulin/epithelin precursor abrogates the requirement for the insulin-like growth factor 1 receptor for growth in vitro.J. Biol. Chem.273(32) , 20078–20083 1998).
   PubMed Web of Science ®Google Scholar
• Zhu J , NathanC, JinW et al.: Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair.Cell111(6) , 867–878 (2002).
   PubMed Web of Science ®Google Scholar
• Kessenbrock K , FrohlichL, SixtM et al.: Proteinase 3 and neutrophil elastase enhance inflammation in mice by inactivating antiinflammatory progranulin.J. Clin. Invest.118(7) , 2438–2447 (2008).
   PubMed Web of Science ®Google Scholar
• Hrabal R , ChenZ, JamesS, BennettHP, NiF: The hairpin stack fold, a novel protein architecture for a new family of protein growth factors.Nat. Struct. Biol.3(9) , 747–752 1996).
   PubMedGoogle Scholar
• Daniel R , HeZ, CarmichaelKP, HalperJ, BatemanA: Cellular localization of gene expression for progranulin.J. Histochem. Cytochem.48(7) , 999–1009 (2000).
   PubMed Web of Science ®Google Scholar
• He Z , OngCH, HalperJ, BatemanA: Progranulin is a mediator of the wound response.Nat. Med.9(2) , 225–229 (2003).
   PubMed Web of Science ®Google Scholar
• He Z , BatemanA: Progranulin (granulin–epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis.J. Mol. Med.81(10) , 600–612 (2003).
   PubMed Web of Science ®Google Scholar
• Lu R , SerreroG: Inhibition of PC cell-derived growth factor (PCDGF, epithelin/granulin precursor) expression by antisense PCDGF cDNA transfection inhibits tumorigenicity of the human breast carcinoma cell line MDA-MB-468.Proc. Natl Aad. Sci. USA97(8) , 3993–3998 (2000).
   PubMed Web of Science ®Google Scholar
• Kato M , HasunumaN, NakayamaR et al.: Progranulin, a secreted tumorigenesis and dementia-related factor, regulates mouse hair growth.J. Dermatol. Sci.53(3) , 234–236 (2009).
   PubMed Web of Science ®Google Scholar
• Kojima Y , OnoK, InoueK et al.: Progranulin expression in advanced human atherosclerotic plaque.Atherosclerosis206(1) , 102–108 (2009).
   PubMed Web of Science ®Google Scholar
• Gijselinck I , Van BroeckhovenC, CrutsM: Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. Hum. Mutat.29(12) , 1373–1386 (2008).
   PubMed Web of Science ®Google Scholar
• Maquat LE : Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.Nat. Rev. Mol. Cell Biol.5(2) , 89–99 (2004).
   PubMed Web of Science ®Google Scholar
• Gijselinck I , van der ZeeJ, EngelborghsSet al.: Progranulin locus deletion in frontotemporal dementia. Hum. Mutat.29(1) , 53–58 (2008).
   PubMed Web of Science ®Google Scholar
• Rovelet-Lecrux A , DeramecourtV, LegallicS et al.: Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease.Neurobiol. Dis.31(1) , 41–45 (2008).
   PubMed Web of Science ®Google Scholar
• Cruts M , Van BroeckhovenC: Loss of progranulin function in frontotemporal lobar degeneration. Trends Genet.24(4) , 186–194 (2008).
   PubMed Web of Science ®Google Scholar
• Baker CA , ManuelidisL: Unique inflammatory RNA profiles of microglia in Creutzfeldt–Jakob disease.Proc. Natl Aad. Sci. USA100(2) , 675–679 (2003).
   PubMed Web of Science ®Google Scholar
• Malaspina A , KaushikN, de BellerocheJ: Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays. J. Neurochem.77(1) , 132–145 (2001).
   PubMed Web of Science ®Google Scholar
• Van Damme P , Van HoeckeA, LambrechtsDet al.: Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J. Cell Biol.181(1) , 37–41 (2008).
   PubMed Web of Science ®Google Scholar
• Mukherjee O , PastorP, CairnsNJ 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.60(3) , 314–322 (2006).
   PubMed Web of Science ®Google Scholar
• Shankaran SS , CapellA, HruschaAT et al.: FTLD-U linked missense mutations in the progranulin gene reduce progranulin production and secretion.J. Biol. Chem.283, 1744–1753 (2008).
   PubMed Web of Science ®Google Scholar
• Mukherjee O , WangJ, GitchoM et al.: Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.Hum. Mutat.29(4) , 512–521 (2008).
   PubMed Web of Science ®Google Scholar
• van der Zee J , Le BerI, Maurer-StrohSet al.: Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum. Mutat.28(4) , 416- (2007).
   PubMed Web of Science ®Google Scholar
• Neary D , SnowdenJS, GustafsonL et al.: Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria.Neurology51(6) , 1546–1554 1998).
   PubMed Web of Science ®Google Scholar
• Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J. Neurol. Neurosurg. Psychiatr.57(4) , 416–418 1994).
   PubMed Web of Science ®Google Scholar
• Arai T , HasegawaM, AkiyamaH et al.: TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.Biochem. Biophys. Res. Commun.351(3) , 602–611 (2006).
   PubMed Web of Science ®Google Scholar
• Neumann M , SampathuDM, KwongLK et al.: Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.Science314(5796) , 130–133 (2006).
   PubMed Web of Science ®Google Scholar
• Hutton M , LendonCL, RizzuP et al.: Association of missense and 5´-splice-site mutations in tau with the inherited dementia FTDP-17.Nature393(6686) , 702–705 1998).
   PubMed Web of Science ®Google Scholar
• Rademakers R , CrutsM, Van BroeckhovenC: The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum. Mutat.24(4) , 277–295 (2004).
   PubMed Web of Science ®Google Scholar
• Watts GD , WymerJ, KovachMJ et al.: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.Nat. Genet.36(4) , 377–381 (2004).
   PubMed Web of Science ®Google Scholar
• Skibinski G , ParkinsonNJ, BrownJM et al.: Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.Nat. Genet.37(8) , 806–808 (2005).
   PubMed Web of Science ®Google Scholar
• Mackenzie IR , BaborieA, Pickering-BrownS et al.: Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype.Acta Neuropathol.112(5) , 539–549 (2006).
   PubMed Web of Science ®Google Scholar
• Sampathu DM , NeumannM, KwongLK et al.: Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies.Am. J. Pathol.169(4) , 1343–1352 (2006).
   PubMed Web of Science ®Google Scholar
• Boeve BF , HuttonM: Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).Arch. Neurol.65(4) , 460–464 (2008).
   PubMedGoogle Scholar
• Ghidoni R , BenussiL, GlionnaM, FranzoniM, BinettiG: Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.Neurology71(16) , 1235–1239 (2008).
   PubMed Web of Science ®Google Scholar
• Sleegers K , BrouwersN, VanDamme Pet al.: A serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann. Neurol.65(5) , 603–609 (2009).
   PubMed Web of Science ®Google Scholar
• Finch N , BakerM, CrookR et al.: Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.Brain132(Pt 3) , 583–591 (2009).
   PubMed Web of Science ®Google Scholar
• Carecchio M , FenoglioC, DeRiz Met al.: Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic mild cognitive impairment converted to Alzheimer's disease. J. Neurol. Sci.287(1–2) , 291–293 (2009).
   PubMed Web of Science ®Google Scholar
• Coppola G , KarydasA, RademakersR et al.: Gene expression study on peripheral blood identifies progranulin mutations.Ann. Neurol.64(1) , 92–96 (2008).
   PubMed Web of Science ®Google Scholar
• Consensus report of the Working Group on: “Molecular and Biochemical Markers of Alzheimer's Disease”. The Ronald and Nancy Reagan Research Institute of the Alzheimer's Association and the National Institute on Aging Working Group. Neurobiol. Aging19(2) , 109–116 1998).
   PubMed Web of Science ®Google Scholar
• Graham A , DaviesR, XuerebJ et al.: Pathologically proven frontotemporal dementia presenting with severe amnesia.Brain128(Pt 3) , 597–605 (2005).
   PubMed Web of Science ®Google Scholar
• Taylor KI , ProbstA, MiserezAR, MonschAU, TolnayM: Clinical course of neuropathologically confirmed frontal-variant Alzheimer's disease.Nat. Clin. Pract. Neurol.4(4) , 226–232 (2008).
   PubMedGoogle Scholar
• Liscic RM , StorandtM, CairnsNJ, MorrisJC: Clinical and psychometric distinction of frontotemporal and Alzheimer dementias.Arch. Neurol.64(4) , 535–540 (2007).
   PubMedGoogle Scholar
• Uryu K , Nakashima-YasudaH, FormanMS et al.: Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies.J. Neuropathol. Exp. Neurol.67(6) , 555–564 (2008).
   PubMed Web of Science ®Google Scholar
• Amador-Ortiz C , LinWL, AhmedZ et al.: TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease.Ann. Neurol.61(5) , 435–445 (2007).
   PubMed Web of Science ®Google Scholar
• Higashi S , IsekiE, YamamotoR et al.: Concurrence of TDP-43, tau and α-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies.Brain Res.1184, 284–294 (2007).
   PubMed Web of Science ®Google Scholar
• Rohn TT : Caspase-cleaved TAR DNA-binding protein-43 is a major pathological finding in Alzheimer's disease.Brain Res.1228, 189–198 (2008).
   PubMed Web of Science ®Google Scholar
• Arai T , MackenzieIR, HasegawaM et al.: Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies.Acta Neuropathol.117(2) , 125–136 (2009).
   PubMed Web of Science ®Google Scholar
• Dermaut B , Kumar-SinghS, RademakersR, TheunsJ, CrutsM, Van BroeckhovenC: Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum. Trends Genet.21(12) , 664–672 (2005).
   PubMed Web of Science ®Google Scholar
• van der Zee J , SleegersK, Van BroeckhovenC: The Alzheimer's disease–frontotemporal lobar degeneration spectrum. Neurology71(15) , 1191–1197 (2008).
   PubMed Web of Science ®Google Scholar
• van der Zee J , RademakersR, EngelborghsS et al.: A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.Brain129(Pt 4) , 841–852 (2006).
   PubMed Web of Science ®Google Scholar
• Behrens MI , MukherjeeO, TuPH et al.: Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.Alzheimer Dis. Assoc. Disord.21(1) , 1–7 (2007).
   PubMed Web of Science ®Google Scholar
• Benussi L , BinettiG, SinaE et al.: A novel deletion in progranulin gene is associated with FTDP-17 and CBS.Neurobiol. Aging29(3) , 427–435 (2008).
   PubMed Web of Science ®Google Scholar
• Brouwers N , SleegersK, EngelborghsS et al.: Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.Neurology71(9) , 656–664 (2008).
   PubMed Web of Science ®Google Scholar
• Pereson S , WilsH, KleinbergerG et al.: Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer disease mouse models.J. Pathol.219(2) , 173–181 (2009).
   PubMed Web of Science ®Google Scholar
• Irwin D , LippaCF, RossoA: Progranulin (PGRN) expression in ALS: an immunohistochemical study.J. Neurol. Sci.276(1–2) , 9–13 (2009).
   PubMed Web of Science ®Google Scholar
• Bernardi L , TomainoC, AnfossiM et al.: Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.Neurobiol. Aging13(11) , 1825–1833 (2009).
   Google Scholar
• van Swieten JC , HeutinkP: Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia.Lancet Neurol.7(10) , 965–974 (2008).
   PubMed Web of Science ®Google Scholar
• Vineis P , SchulteP, McMichaelAJ: Misconceptions about the use of genetic tests in populations.Lancet357(9257) , 709–712 (2001).
   PubMed Web of Science ®Google Scholar
• Brookmeyer R , GrayS, KawasC: Projections of Alzheimer's disease in the United States and the public health impact of delaying disease onset.Am. J. Public Health88(9) , 1337–1342 1998).
   PubMed Web of Science ®Google Scholar
• Youn BS , BangSI, KlotingN et al.: Serum progranulin concentrations may be associated with macrophage infiltration into omental adipose tissue.Diabetes58(3) , 627–636 (2009).
   PubMed Web of Science ®Google Scholar
• Serrero G , IoffeOB: Expression of PC-cell-derived growth factor in benign and malignant human breast epithelium.Hum. Pathol.34(11) , 1148–1154 (2003).
   PubMed Web of Science ®Google Scholar
• Jones MB , MichenerCM, BlanchetteJO et al.: The granulin–epithelin precursor/PC-cell-derived growth factor is a growth factor for epithelial ovarian cancer.Clin. Cancer Res.9(1) , 44–51 (2003).
   PubMed Web of Science ®Google Scholar
• Lovat F , BittoA, XuSQ et al.: Proepithelin is an autocrine growth factor for bladder cancer.Carcinogenesis30(5) , 861–868 (2009).
   PubMed Web of Science ®Google Scholar
• Pan CX , KinchMS, KienerPA et al.: PC cell-derived growth factor expression in prostatic intraepithelial neoplasia and prostatic adenocarcinoma.Clin. Cancer Res.10(4) , 1333–1337 (2004).
   PubMed Web of Science ®Google Scholar
• Cheung ST , WongSY, LeungKL et al.: Granulin–epithelin precursor overexpression promotes growth and invasion of hepatocellular carcinoma.Clin. Cancer Res.10(22) , 7629–7636 (2004).
   PubMed Web of Science ®Google Scholar
• Ho JC , IpYC, CheungST et al.: Granulin-epithelin precursor as a therapeutic target for hepatocellular carcinoma.Hepatology47(5) , 1524–1532 (2008).
   PubMed Web of Science ®Google Scholar
• Luchsinger JA , GustafsonDR: Adiposity, Type 2 diabetes, and Alzheimer's disease.J. Alzheimers Dis.16(4) , 693–704 (2009).
   PubMed Web of Science ®Google Scholar
• Geser F , Martinez-LageM, KwongLK, LeeVM, TrojanowskiJQ: Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases.J. Neurol.256(8) , 1205–1214 (2009).
   PubMed Web of Science ®Google Scholar

Website

• Alzheimer's disease and frontotemporal lobar degeneration mutation database www.molgen.ua.ac.be/FTDMutations
   Google Scholar