Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

scientific article published on 2 November 2015

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.NEUROBIOLAGING.2015.10.029
P932PMC publication ID4738142
P698PubMed publication ID26652843

P50authorCeleste M KarchQ56449209
Lubov A EzerskiyQ58133535
Fabrizio TagliaviniQ63409934
P2093author name stringVeronica Redaelli
Giacomina Rossi
Anna Rita Giovagnoli
Pietro Tiraboschi
Maria Giulia Ferretti
Elena Piccoli
Dimos Kapetis
Giuseppe Pelliccioni
Ilaria D'Amato
Paolo Pelliccioni
P2860cites workProgranulin in frontotemporal lobar degeneration and neuroinflammationQ21245242
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSQ24633692
Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activitiesQ27650138
A method and server for predicting damaging missense mutationsQ27860835
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Q28253639
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Q28253651
Slowly progressive aphasia without generalized dementiaQ28278856
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteriaQ29614410
SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary informationQ29615720
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegenerationQ30495415
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a reviewQ33726688
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APPQ33771562
A graphical interface for the FoldX forcefieldQ33877174
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degenerationQ33999208
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.Q34326849
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicineQ34374148
An algorithm for genetic testing of frontotemporal lobar degenerationQ34555422
Improving physical realism, stereochemistry, and side-chain accuracy in homology modeling: Four approaches that performed well in CASP8.Q34612025
Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshopQ34733901
Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesisQ35203303
Locus-specific mutation databases for neurodegenerative brain diseasesQ36302037
Progranulin regulates neuronal outgrowth independent of sortilinQ36430434
Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survivalQ36527176
Advances in understanding the molecular basis of frontotemporal dementiaQ36775677
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK seriesQ36960858
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family membersQ37148011
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.Q37248850
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementiaQ37373937
The granulin gene family: from cancer to dementiaQ37606400
Novel progranulin variants do not disrupt progranulin secretion and cleavageQ39140598
Pathogenic cysteine mutations affect progranulin function and production of mature granulinsQ39760142
Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repairQ40677795
Extracellular progranulin protects cortical neurons from toxic insults by activating survival signalingQ42059392
Tau is a candidate gene for chromosome 17 frontotemporal dementiaQ42456776
Cortical-basal ganglionic degenerationQ42485439
Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohortQ44806040
Serum biomarker for progranulin-associated frontotemporal lobar degenerationQ46087404
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaQ48250357
Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study.Q50980787
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.Q51973117
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?Q53324149
Database resources of the National Center for Biotechnology InformationQ57444435
P921main subjectfrontotemporal lobar degenerationQ18579
pathogenesisQ372016
P304page(s)215.e1-215.e12
P577publication date2015-11-02
P1433published inNeurobiology of AgingQ7002141
P1476titleMissense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features
P478volume38

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