Pathogenic cysteine mutations affect progranulin function and production of mature granulins

scientific article

Pathogenic cysteine mutations affect progranulin function and production of mature granulins is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1111/J.1471-4159.2009.06546.X
P932PMC publication ID2819556
P698PubMed publication ID20028451
P5875ResearchGate publication ID40758953

P50authorWim RobberechtQ30111701
Philip Van DammeQ32426029
Carlos CruchagaQ37380520
Alison GoateQ45660395
Michael A GitchoQ96097654
P2093author name stringJun Wang
Lei Wang
Manuel Seijo-Martínez
Jane Y Wu
Jose Manuel Vidal
P2860cites workNull mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Q28253639
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Q28253651
Progranulin: normal function and role in neurodegenerationQ28254281
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17Q28274687
Processing of gene expression data generated by quantitative real-time RT-PCR.Q30699578
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulinQ33576895
Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's DiseaseQ33955976
Netrin requires focal adhesion kinase and Src family kinases for axon outgrowth and attractionQ34360468
Update on the neuropathological diagnosis of frontotemporal dementiasQ34475412
Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesisQ35203303
Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicityQ35990227
Mutation in the tau gene in familial multiple system tauopathy with presenile dementiaQ36507684
Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survivalQ36527176
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family membersQ37148011
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementiaQ37373937
Cortical atrophy and language network reorganization associated with a novel progranulin mutation.Q38385539
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.Q40051471
Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repairQ40677795
Tau is a candidate gene for chromosome 17 frontotemporal dementiaQ42456776
The hairpin stack fold, a novel protein architecture for a new family of protein growth factorsQ42637400
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementiaQ46722751
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer diseaseQ46813677
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.Q51973117
Effects of vascular endothelial growth factor (VEGF) on motor neuron degenerationQ57244966
P4510describes a project that usesImageJQ1659584
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)1305-1315
P577publication date2009-12-17
P1433published inJournal of NeurochemistryQ6295643
P1476titlePathogenic cysteine mutations affect progranulin function and production of mature granulins
P478volume112

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cites work (P2860)
Q48388837Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg
Q38882131Are progranulin levels associated with polycystic ovary syndrome and its possible metabolic effects in adolescents and young women?
Q37879596Cellular effects of progranulin in health and disease
Q39472371Circulating progranulin as a biomarker for neurodegenerative diseases
Q50947419Disulfide bonds and disorder in granulin-3: An unusual handshake between structural stability and plasticity.
Q37248850Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Q42059392Extracellular progranulin protects cortical neurons from toxic insults by activating survival signaling
Q64046371Frequency of frontotemporal dementia gene variants in , , and in academic versus commercial laboratory cohorts
Q38786774Genetics of FTLD: overview and what else we can expect from genetic studies
Q37882469Human genetics as a tool to identify progranulin regulators
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
Q26829009Mouse models of frontotemporal dementia
Q39140598Novel progranulin variants do not disrupt progranulin secretion and cleavage
Q55439517Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.
Q64268616Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia
Q43447667Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy
Q27011876Potential roles of microglial cell progranulin in HIV-associated CNS pathologies and neurocognitive impairment
Q47548337Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis.
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Q28477534Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins
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Q28603912The African Turquoise Killifish Genome Provides Insights into Evolution and Genetic Architecture of Lifespan
Q56594618The lysosomal function of progranulin, a guardian against neurodegeneration

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