Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations (Q26777247)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

frontotemporal lobar degeneration

28 February 2020

main subject

pathogenesis

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Giacomina Rossi

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

14 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

Frontiers in Aging Neuroscience

28 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

7

1 reference

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28 February 2020

page(s)

192

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

Interaction of tau protein with the dynactin complex

28 February 2020

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7 April 2017

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7 April 2017

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A common inversion under selection in Europeans

7 April 2017

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A novel tau mutation, p.K317N, causes globular glial tauopathy

7 April 2017

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Lost after translation: missorting of Tau protein and consequences for Alzheimer disease

28 September 2017

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The clinical significance of small copy number variants in neurodevelopmental disorders

28 September 2017

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Advances in therapeutics for neurodegenerative tauopathies: moving toward the specific targeting of the most toxic tau species.

28 September 2017

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Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

28 September 2017

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A major role for Tau in neuronal DNA and RNA protection in vivo under physiological and hyperthermic conditions

28 September 2017

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Mutations in MAPT give rise to aneuploidy in animal models of tauopathy

28 September 2017

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Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

28 September 2017

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A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function

28 September 2017

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

28 September 2017

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Tau pathology and neurodegeneration

28 September 2017

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Initiation of assembly of tau(273-284) and its ΔK280 mutant: an experimental and computational study.

28 September 2017

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

28 September 2017

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Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome

28 September 2017

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Frontotemporal degeneration, the next therapeutic frontier: molecules and animal models for frontotemporal degeneration drug development

28 September 2017

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Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

28 September 2017

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Biochemistry and cell biology of tau protein in neurofibrillary degeneration

28 September 2017

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28 September 2017

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The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

28 September 2017

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28 September 2017

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Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

28 September 2017

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Phenotypic signatures of genetic frontotemporal dementia

28 September 2017

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Neuropathology of frontotemporal lobar degeneration-tau (FTLD-tau).

28 September 2017

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28 September 2017

The many faces of tau

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The frontotemporal dementia mutation R406W blocks tau's interaction with the membrane in an annexin A2-dependent manner.

28 September 2017

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Preparation and characterization of neurotoxic tau oligomers

28 September 2017

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Phosphorylation of tau at Thr212, Thr231, and Ser262 combined causes neurodegeneration

28 September 2017

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Alzheimer Abeta peptide induces chromosome mis-segregation and aneuploidy, including trisomy 21: requirement for tau and APP.

28 September 2017

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A thorough assessment of benign genetic variability in GRN and MAPT.

28 September 2017

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The heritability and genetics of frontotemporal lobar degeneration.

28 September 2017

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Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.

28 September 2017

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Mechanisms of tau-induced neurodegeneration

28 September 2017

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Tau pathophysiology in neurodegeneration: a tangled issue

28 September 2017

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Pathogenic missense MAPT mutations differentially modulate tau aggregation propensity at nucleation and extension steps

28 September 2017

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Binding to the minor groove of the double-strand, tau protein prevents DNA from damage by peroxidation

28 September 2017

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28 September 2017

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28 September 2017

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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

28 September 2017

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Removal of pattern-breaking sequences in microtubule binding repeats produces instantaneous tau aggregation and toxicity

28 September 2017

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

28 September 2017

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

28 September 2017

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

28 September 2017

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Increased levels of granular tau oligomers: an early sign of brain aging and Alzheimer's disease

28 September 2017

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Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

28 September 2017

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Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

28 September 2017

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Distinct FTDP-17 missense mutations in tau produce tau aggregates and other pathological phenotypes in transfected CHO cells

28 September 2017

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Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

28 September 2017

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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

28 September 2017

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High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

28 September 2017

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Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

28 September 2017

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Domains of tau protein, differential phosphorylation, and dynamic instability of microtubules

28 September 2017

1 reference

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Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau.

28 September 2017

1 reference

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Isolation of a fragment of tau derived from the core of the paired helical filament of Alzheimer disease

28 September 2017

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Tau as a nucleolar protein in human nonneural cells in vitro and in vivo

28 September 2017

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Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization

28 September 2017

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Formation and propagation of tau oligomeric seeds

28 September 2017

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5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

31 May 2018

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The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

31 May 2018

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Sites of tau important for aggregation populate {beta}-structure and bind to microtubules and polyanions

31 May 2018

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Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

31 May 2018

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Prominent axonopathy in the brain and spinal cord of transgenic mice overexpressing four-repeat human tau protein

31 May 2018

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Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms

31 May 2018

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Promotion of hyperphosphorylation by frontotemporal dementia tau mutations

31 May 2018

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Hyperphosphorylation and aggregation of tau in mice expressing normal human tau isoforms.

21 January 2018

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Association of an extended haplotype in the tau gene with progressive supranuclear palsy.

21 January 2018

1 reference

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Accumulation of pathological tau species and memory loss in a conditional model of tauopathy.

21 January 2018

1 reference

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A polymorphism in the tau gene associated with risk for Alzheimer's disease.

21 January 2018

1 reference

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FTDP-17 mutations compromise the ability of tau to regulate microtubule dynamics in cells

21 January 2018

1 reference

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Genetic evidence for the involvement of tau in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Structural and functional differences between 3-repeat and 4-repeat tau isoforms. Implications for normal tau function and the onset of neurodegenetative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

21 January 2018

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Rare autosomal copy number variations in early-onset familial Alzheimer's disease.

21 January 2018

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Tau could protect DNA double helix structure.

21 January 2018

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Global hairpin folding of tau in solution

21 January 2018

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Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

21 January 2018

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Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

21 January 2018

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Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7.

21 January 2018

2 references

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604311

Three- and four-repeat tau regulate the dynamic instability of two distinct microtubule subpopulations in qualitatively different manners. Implications for neurodegeneration

28 November 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Pick's disease associated with the novel Tau gene mutation K369I.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

An English kindred with a novel recessive tauopathy and respiratory failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Mutation screening of the tau gene in patients with early-onset Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Frontotemporal dementia phenotype associated with MAPT gene duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Glycogen synthase kinase-3beta phosphorylates protein tau and rescues the axonopathy in the central nervous system of human four-repeat tau transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

The +347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Tau proteins harboring neurodegeneration-linked mutations impair kinesin translocation in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

MAPT S305I mutation: implications for argyrophilic grain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Tau protein isoforms, phosphorylation and role in neurodegenerative disorders11These authors contributed equally to this work

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

De novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNAGI.2015.00192

Pick's disease is associated with mutations in the tau gene.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604311

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604311

Microtubule-associated protein tau in human fibroblasts with the Swedish Alzheimer mutation

28 November 2018

1 reference

12 December 2020

1 reference

12 December 2020

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

1 reference

12 December 2020

Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly

1 reference

12 December 2020

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

1 reference

12 December 2020

Domains of tau protein and interactions with microtubules

1 reference

12 December 2020

Tau protein binds to pericentromeric DNA: a putative role for nuclear tau in nucleolar organization

1 reference

12 December 2020

Functional effects of tau gene mutations deltaN296 and N296H

1 reference

12 December 2020

FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10

1 reference

12 December 2020

Effects on splicing and protein function of three mutations in codon N296 of tau in vitro

1 reference

12 December 2020

Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure

1 reference

12 December 2020

A new function of microtubule-associated protein tau: involvement in chromosome stability

1 reference

12 December 2020

tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites

1 reference

12 December 2020

Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy

1 reference

12 December 2020

Structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias

1 reference

12 December 2020

Identifiers

DOI

10.3389/FNAGI.2015.00192

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528178%20AND%20SRC:MED&resulttype=core&format=json