The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons (Q37491307)

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2 March 2020

case report

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title

The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons (English)

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2 March 2020

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2

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Malin Parmar

9

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Miratul Muqit

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Maria Grazia Spillantini

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Maria Grazia Spillantini

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4

Tammaryn Lashley

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3

Janice L Holton

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author name string

Mariangela Iovino

1

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Robert J Swingler

5

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Laura Calo

6

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Rebecca Treacy

7

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Tamas Revesz

8

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Michel Goedert

10

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publication date

30 November 2013

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published in

Acta Neuropathologica

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volume

127

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issue

2

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page(s)

283-295

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Creative Commons Attribution 2.0 Generic

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copyright license

start time

30 November 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

The epidemiology of frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Direct conversion of human fibroblasts to dopaminergic neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Human stem cell-derived neurons: a system to study human tau function and dysfunction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Activin/Nodal inhibition alone accelerates highly efficient neural conversion from human embryonic stem cells and imposes a caudal positional identity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Frontotemporal dementia with tau pathology.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Frontotemporal lobar degeneration: current concepts in the light of recent advances

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Frontotemporal dementia: implications for understanding Alzheimer disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Cell fate plug and play: direct reprogramming and induced pluripotency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Neuropathological background of phenotypical variability in frontotemporal dementia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Tau pathology in a family with dementia and a P301L mutation in tau.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895181

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

2 September 2018

1 reference

12 December 2020

Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

1 reference

12 December 2020

Functional effects of tau gene mutations deltaN296 and N296H

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

Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups

1 reference

12 December 2020

Domains of tau protein and interactions with microtubules

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00401-013-1219-1

Identifiers

DOI

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2 March 2020

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2 March 2020

PubMed publication ID

24292008

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