(Q35999257)

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Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

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scholarly article

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Europe PubMed Central

PMC publication ID

11 August 2017

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

frontotemporal dementia

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inferred from title

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Charles Arber

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object named as

Selina Wray

18

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Michael J Devine

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Michael J Devine

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Trevor J Bushell

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Trevor J Bushell

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Tilo Kunath

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Michele Zagnoni

object named as

Michele Zagnoni

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Nick C Fox

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object named as

Elisavet Preza

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Colin J Mahoney

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Colin J Mahoney

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object named as

Martin N Rossor

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John Anthony Hardy

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object named as

John Hardy

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Europe PubMed Central

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11 August 2017

Natalie Castellanos-Ryan

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Natalie S Ryan

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11 August 2017

1

object named as

Teresa Sposito

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Europe PubMed Central

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11 August 2017

author name string

Núria Setó-Salvia

4

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Europe PubMed Central

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11 August 2017

Huw R Morris

6

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11 August 2017

Henry Houlden

9

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Europe PubMed Central

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11 August 2017

Thomas T Warner

10

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11 August 2017

Frederick J Livesey

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11 August 2017

publication date

1 July 2015

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11 August 2017

Human Molecular Genetics

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11 August 2017

24

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Europe PubMed Central

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11 August 2017

18

1 reference

Europe PubMed Central

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11 August 2017

5260-5269

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Human stem cell models of dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Physiological characterisation of human iPS-derived dopaminergic neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Genetic correction of tauopathy phenotypes in neurons derived from human induced pluripotent stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Variation in tau isoform expression in different brain regions and disease states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Differential effect of three-repeat and four-repeat tau on mitochondrial axonal transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Haplotype-specific expression of exon 10 at the human MAPT locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Developmentally regulated, combinatorial RNA processing modulates AMPA receptor biogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Reprogramming of tau alternative splicing by spliceosome-mediated RNA trans-splicing: implications for tauopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Biopsy-derived adult human brain tau is phosphorylated at many of the same sites as Alzheimer's disease paired helical filament tau.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Relative exon affinities and suboptimal splice site signals lead to non-equivalence of two cassette exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

2 October 2017

A three-dimensional human neural cell culture model of Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

11 July 2018

Developmental changes in tau phosphorylation: fetal tau is transiently phosphorylated in a manner similar to paired helical filament-tau characteristic of Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

11 July 2018

Distribution of the phosphorylated microtubule-associated protein tau in developing cortical neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

11 July 2018

Structure and novel exons of the human tau gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

11 July 2018

Embryonic stem cell-based modeling of tau pathology in human neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

Quantitative analysis of tau isoform transcripts in sporadic tauopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

Clogging of axons by tau, inhibition of axonal traffic and starvation of synapses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

The complex relationship between soluble and insoluble tau in tauopathies revealed by efficient dephosphorylation and specific antibodies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550814

23 September 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV246

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26136155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo phosphorylation sites in fetal and adult rat tau

1 reference

https://pubmed.ncbi.nlm.nih.gov/26136155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDV246

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

ResearchGate publication ID

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