Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.

scientific article published on 5 November 2007

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1074/JBC.M705115200
P698PubMed publication ID17984093
P5875ResearchGate publication ID5862769

P50authorChristian HaassQ107652
Anja CapellQ63092243
Manuela NeumannQ66730291
P2093author name stringBettina Schmid
Katrin Fellerer
Sunita S Shankaran
Alexander T Hruscha
P2860cites workTDP43 depletion rescues aberrant CFTR exon 9 skipping.Q51276789
Large-scale mutagenesis in the zebrafish: in search of genes controlling development in a vertebrate.Q52218193
Progranulin in frontotemporal lobar degeneration and neuroinflammationQ21245242
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingQ24291081
Inhibition of tumorigenicity of the teratoma PC cell line by transfection with antisense cDNA for PC cell-derived growth factor (PCDGF, epithelin/granulin precursor)Q24652242
The zebrafish progranulin gene family and antisense transcriptsQ24816085
Stages of embryonic development of the zebrafishQ27860947
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisQ28131672
Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid beta-peptideQ28131750
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
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17Q28274687
Involvement of granulin in estrogen-induced neurogenesis in the adult rat hippocampusQ28570107
Role of blood vessels in producing pathological changes in the brain with Alzheimer's diseaseQ30872231
Cellular localization of gene expression for progranulinQ33180554
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulinQ33576895
Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.Q34601207
Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesisQ35203303
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.Q35667940
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusionsQ35928153
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypesQ36227050
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutationsQ36728531
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.Q40075711
Prosurvival function of the granulin-epithelin precursor is important in tumor progression and chemoresponseQ40176984
An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicingQ40589634
Structural diversity and functional implications of the eukaryotic TDP gene familyQ40608660
Progranulin is a mediator of the wound responseQ40678214
Presenilin-1 differentially facilitates endoproteolysis of the beta-amyloid precursor protein and NotchQ40883659
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutationsQ42509587
Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory functionQ46434717
TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusionsQ48244352
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutationsQ48284829
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin geneQ48384348
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic studyQ48400369
Novel splicing mutation in the progranulin gene causing familial corticobasal syndromeQ48400376
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM intervalQ48428753
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectfrontotemporal lobar degenerationQ18579
P304page(s)1744-1753
P577publication date2007-11-05
P1433published inJournal of Biological ChemistryQ867727
P1476titleMissense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.
P478volume283

Reverse relations

cites work (P2860)
Q52851529A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.
Q35194634A network of RNA and protein interactions in Fronto Temporal Dementia
Q43101035A pollen-specific RALF from tomato that regulates pollen tube elongation
Q33624840A thorough assessment of benign genetic variability in GRN and MAPT.
Q46461914Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS.
Q48388837Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg
Q40356383Angiogenin Prevents Progranulin A9D Mutation-Induced Neuronal-Like Cell Apoptosis Through Cleaving tRNAs into tiRNAs
Q37879596Cellular effects of progranulin in health and disease
Q42805112Changes in matrix metalloprotease activity and progranulin levels may contribute to the pathophysiological function of mutant leucine-rich repeat kinase 2.
Q39472371Circulating progranulin as a biomarker for neurodegenerative diseases
Q30541723Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis
Q35577194Core features of frontotemporal dementia recapitulated in progranulin knockout mice
Q91726350Cysteine-rich granulin-3 rapidly promotes amyloid-β fibrils in both redox states
Q38971962Dual cell protective mechanisms activated by differing levels of oxidative stress in HT22 murine hippocampal cells.
Q36734898Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Q37248850Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Q37485507Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain
Q42059392Extracellular progranulin protects cortical neurons from toxic insults by activating survival signaling
Q37241079FTD and ALS: a tale of two diseases
Q53268278Frontotemporal dementia.
Q37928504Frontotemporal dementia: from Mendelian genetics towards genome wide association studies
Q36794765Fully reduced granulin-B is intrinsically disordered and displays concentration-dependent dynamics
Q30503638Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
Q38786774Genetics of FTLD: overview and what else we can expect from genetic studies
Q38027808Genetics of dementia: update and guidelines for the clinician
Q28544656Granulin knock out zebrafish lack frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis pathology
Q81430169Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update
Q37882469Human genetics as a tool to identify progranulin regulators
Q34538196Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease
Q30538184Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth
Q26824221Mechanisms of granulin deficiency: lessons from cellular and animal models
Q36003800Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration
Q36535668Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features
Q38209473Modelling inborn errors of metabolism in zebrafish.
Q37209771Molecular genetics of Alzheimer's disease: an update
Q26829009Mouse models of frontotemporal dementia
Q48248773Multiple therapeutic effects of progranulin on experimental acute ischaemic stroke
Q36438687No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort
Q37235164Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration
Q39140598Novel progranulin variants do not disrupt progranulin secretion and cleavage
Q55439517Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.
Q39760142Pathogenic cysteine mutations affect progranulin function and production of mature granulins
Q64119235Precision Medicine for Frontotemporal Dementia
Q47548337Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis.
Q37921642Progranulin and TDP-43: mechanistic links and future directions
Q37978700Progranulin axis and recent developments in frontotemporal lobar degeneration
Q34916082Progranulin expression is upregulated after spinal contusion in mice.
Q36527176Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival
Q35164339Progranulin gene delivery protects dopaminergic neurons in a mouse model of Parkinson's disease.
Q48137804Progranulin increases phagocytosis by retinal pigment epithelial cells in culture
Q33513028Progranulin is expressed within motor neurons and promotes neuronal cell survival
Q33725391Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy
Q30497278Progranulin modulates zebrafish motoneuron development in vivoand rescues truncation defects associated with knockdown of Survival motor neuron 1
Q36922853Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3β.
Q36430434Progranulin regulates neuronal outgrowth independent of sortilin
Q34170826Progranulin transcripts with short and long 5' untranslated regions (UTRs) are differentially expressed via posttranscriptional and translational repression
Q38691811Progranulin, lysosomal regulation and neurodegenerative disease
Q47623958Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease
Q36294670Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration
Q36826623Progranulin: an emerging target for FTLD therapies
Q38015344Recent insights into the involvement of progranulin in frontotemporal dementia.
Q33830518Recent insights into the molecular genetics of dementia
Q93193248Reduction of microglial progranulin does not exacerbate pathology or behavioral deficits in neuronal progranulin-insufficient mice
Q39240888Reduction of polyglutamine toxicity by TDP-43, FUS and progranulin in Huntington's disease models.
Q41933726Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase.
Q38853352Restoring neuronal progranulin reverses deficits in a mouse model of frontotemporal dementia
Q34642738Review: transactive response DNA-binding protein 43 (TDP-43): mechanisms of neurodegeneration
Q37730008Role of progranulin as a biomarker for Alzheimer's disease
Q33742148Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease
Q37892442Structure, function, and mechanism of progranulin; the brain and beyond
Q38096349TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update
Q37733168TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Q57306362TDP-43 in neurodegenerative disorders
Q37730909TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
Q34555400TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.
Q36247028TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways
Q35589301TREM2 is associated with increased risk for Alzheimer's disease in African Americans
Q28587955Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency
Q64054884The Pathobiology of TDP-43 C-Terminal Fragments in ALS and FTLD
Q24615201The genetics and neuropathology of frontotemporal lobar degeneration
Q37152489The growth factor progranulin attenuates neuronal injury induced by cerebral ischemia-reperfusion through the suppression of neutrophil recruitment
Q38661883The lysosomal protein cathepsin L is a progranulin protease
Q37564674The molecular basis of frontotemporal dementia
Q37593727The molecular links between TDP-43 dysfunction and neurodegeneration
Q30495415The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
Q37254394The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis.
Q41878973Tunicamycin produces TDP-43 cytoplasmic inclusions in cultured brain organotypic slices
Q37205729Update on recent molecular and genetic advances in frontotemporal lobar degeneration
Q37831557Zebrafish as a model to understand autophagy and its role in neurological disease

Search more.