A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function (Q35006348)

5 August 2017

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

1 reference

5 August 2017

1 reference

frontotemporal dementia

1 reference

8

1 reference

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31 May 2020

Cezary Zekanowski

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24086739%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

6

Anna Barczak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24086739%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

4

Mariusz Berdynski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24086739%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Abhinaya Iyer

1

1 reference

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31 May 2020

Nichole E Lapointe

2

1 reference

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31 May 2020

Krzysztof Zielke

3

1 reference

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31 May 2020

Elmer Guzman

5

1 reference

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31 May 2020

Małgorzata Chodakowska-Żebrowska

7

1 reference

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31 May 2020

Stuart Feinstein

9

1 reference

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31 May 2020

language of work or name

English

0 references

publication date

27 September 2013

1 reference

5 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24086739%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

8

1 reference

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31 May 2020

issue

9

1 reference

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31 May 2020

page(s)

e76409

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Creative Commons Attribution 4.0 International

31 May 2020

copyright license

start time

27 September 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

FTDP-17 tau mutations induce distinct effects on aggregation and microtubule interactions

1 reference

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Genetics of dementia: update and guidelines for the clinician

8 July 2018

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Biochemistry and cell biology of tau protein in neurofibrillary degeneration

8 July 2018

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Advances in understanding the molecular basis of frontotemporal dementia

8 July 2018

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Tau isoform composition influences rate and extent of filament formation

8 July 2018

1 reference

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The microtubule-stabilizing agent, epothilone D, reduces axonal dysfunction, neurotoxicity, cognitive deficits, and Alzheimer-like pathology in an interventional study with aged tau transgenic mice

8 July 2018

1 reference

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Frontotemporal dementia: implications for understanding Alzheimer disease

8 July 2018

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Phenotypic signatures of genetic frontotemporal dementia

8 July 2018

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Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

8 July 2018

1 reference

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Frontotemporal dementia: from Mendelian genetics towards genome wide association studies

8 July 2018

1 reference

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Combinatorial Tau pseudophosphorylation: markedly different regulatory effects on microtubule assembly and dynamic instability than the sum of the individual parts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Amyloid-β/Fyn-induced synaptic, network, and cognitive impairments depend on tau levels in multiple mouse models of Alzheimer's disease.

8 July 2018

1 reference

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Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

8 July 2018

1 reference

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Epothilone D improves microtubule density, axonal integrity, and cognition in a transgenic mouse model of tauopathy

8 July 2018

1 reference

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Maytansine and cellular metabolites of antibody-maytansinoid conjugates strongly suppress microtubule dynamics by binding to microtubules

8 July 2018

1 reference

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The role of tau kinases in Alzheimer's disease

8 July 2018

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Dendritic function of tau mediates amyloid-beta toxicity in Alzheimer's disease mouse models

8 July 2018

1 reference

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Analysis of dynamic instability of steady-state microtubules in vitro by video-enhanced differential interference contrast microscopy with an appendix by Emin Oroudjev

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Preparation of microtubule protein and purified tubulin from bovine brain by cycles of assembly and disassembly and phosphocellulose chromatography

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Frontotemporal dementia, Pick's disease

8 July 2018

1 reference

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Interneuronal transfer of human tau between Lamprey central neurons in situ

8 July 2018

1 reference

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Axon extension occurs independently of centrosomal microtubule nucleation.

8 July 2018

1 reference

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Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia: a cluster analysis study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Microtubule assembly, organization and dynamics in axons and dendrites

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Structural polymorphism of 441-residue tau at single residue resolution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Tau mutations in neurodegenerative diseases

8 July 2018

1 reference

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FTDP-17 mutations in Tau alter the regulation of microtubule dynamics: an "alternative core" model for normal and pathological Tau action.

8 July 2018

1 reference

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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

8 July 2018

1 reference

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Complementary dimerization of microtubule-associated tau protein: Implications for microtubule bundling and tau-mediated pathogenesis

8 July 2018

1 reference

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Tau-mediated neurodegeneration in Alzheimer's disease and related disorders

8 July 2018

1 reference

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Structural principles of tau and the paired helical filaments of Alzheimer's disease

8 July 2018

1 reference

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The role of tau phosphorylation in the pathogenesis of Alzheimer's disease

8 July 2018

1 reference

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A century of Alzheimer's disease

8 July 2018

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The genetics of axonal transport and axonal transport disorders

8 July 2018

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

8 July 2018

1 reference

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Inability of tau to properly regulate neuronal microtubule dynamics: a loss-of-function mechanism by which tau might mediate neuronal cell death

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Modulation of microtubule dynamics by tau in living cells: implications for development and neurodegeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Phosphorylation of tau by fyn: implications for Alzheimer's disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Differential regulation of microtubule dynamics by three- and four-repeat tau: implications for the onset of neurodegenerative disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Microtubule-dependent oligomerization of tau. Implications for physiological tau function and tauopathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

In vitro polymerization of tau protein monitored by laser light scattering: method and application to the study of FTDP-17 mutants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Differential assembly of human tau isoforms in the presence of arachidonic acid

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

The structural basis of monoclonal antibody Alz50's selectivity for Alzheimer's disease pathology.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Microtubule nucleation and release from the neuronal centrosome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Sense and antisense transfection analysis of tau function: tau influences net microtubule assembly, neurite outgrowth and neuritic stability.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

The primary structure and heterogeneity of tau protein from mouse brain.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

The microtubule binding domain of tau protein.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Structure of the bovine tau gene: alternatively spliced transcripts generate a protein family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Tau consists of a set of proteins with repeated C-terminal microtubule-binding domains and variable N-terminal domains

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Preparation of modified tubulins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Tau protein binds to microtubules through a flexible array of distributed weak sites

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

The effect of tau antisense oligonucleotides on neurite formation of cultured cerebellar macroneurons.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Projection domains of MAP2 and tau determine spacings between microtubules in dendrites and axons

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Modulation of the dynamic instability of tubulin assembly by the microtubule-associated protein tau

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3785453

Genetics of frontotemporal lobar degeneration.

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

{beta}-Amyloid-induced neurodegeneration and protection by structurally diverse microtubule-stabilizing agents.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

Pattern of Tau forms in CSF is altered in progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

Secretion of human tau fragments resembling CSF-tau in Alzheimer's disease is modulated by the presence of the exon 2 insert.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

Alz-50 and MC-1, a new monoclonal antibody raised to paired helical filaments, recognize conformational epitopes on recombinant tau.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

Global hairpin folding of tau in solution

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

Human Gene Mutation: Mechanisms and Consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076409

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24086739

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Tau isoform-specific modulation of kinesin-driven microtubule gliding rates and trajectories as determined with tau-stabilized microtubules

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24086739

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Proof of "disease causing" mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24086739

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0076409

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24086739%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24086739%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24086739%20AND%20SRC:MED&resulttype=core&format=json