Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. (Q33963856)

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

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

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

1 reference

Europe PubMed Central

30 July 2017

Parkinson's disease

1 reference

based on heuristic

inferred from title

frontotemporal dementia

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

object named as

A M Goate

4

1 reference

ORCID Public Data File 2021

author name string

Z Jiang

1

1 reference

Europe PubMed Central

30 July 2017

J Cote

2

1 reference

Europe PubMed Central

30 July 2017

J M Kwon

3

1 reference

Europe PubMed Central

30 July 2017

J Y Wu

5

1 reference

Europe PubMed Central

30 July 2017

language of work or name

0 references

publication date

1 June 2000

1 reference

Europe PubMed Central

30 July 2017

Molecular and Cellular Biology

1 reference

Europe PubMed Central

30 July 2017

20

1 reference

Europe PubMed Central

30 July 2017

11

1 reference

Europe PubMed Central

30 July 2017

4036-4048

1 reference

Europe PubMed Central

30 July 2017

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

A distinct familial presenile dementia with a novel missense mutation 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=85774

5 July 2018

Interaction of the U1 snRNP with nonconserved intronic sequences affects 5' splice site selection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

The C-terminal region of hPrp8 interacts with the conserved GU dinucleotide at the 5' splice site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

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=85774

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Kinesin and dynein superfamily proteins and the mechanism of organelle transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Natural base-pairing interactions between 5' splice site and branch site sequences affect mammalian 5' splice site selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

A highly stable duplex structure sequesters the 5' splice site region of hnRNP A1 alternative exon 7B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Functional properties of p54, a novel SR protein active in constitutive and alternative splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

The structure and function of proteins involved in mammalian pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Initial splice-site recognition and pairing during pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

The canonical GU dinucleotide at the 5' splice site is recognized by p220 of the U5 snRNP within the spliceosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Short artificial hairpins sequester splicing signals and inhibit yeast pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Specific interactions between proteins implicated in splice site selection and regulated alternative splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Pathways for selection of 5' splice sites by U1 snRNPs and SF2/ASF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Microtubule organization and dynamics dependent on microtubule-associated proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Protein-protein interactions and 5'-splice-site recognition in mammalian mRNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Genetic and biochemical analysis of alternative RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Extensive interactions of PRP8 protein with the 5' and 3' splice sites during splicing suggest a role in stabilization of exon alignment by U5 snRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Microtubules and microtubule-associated proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Uncoupling two functions of the U1 small nuclear ribonucleoprotein particle during in vitro splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Tau domains, phosphorylation, and interactions with microtubules.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

The human splicing factor ASF/SF2 can specifically recognize pre-mRNA 5' splice sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Finding splice sites within a wilderness of RNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Alternative splicing caused by RNA secondary structure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Amount of RNA secondary structure required to induce an alternative splice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Separation of multiple components of HeLa cell nuclear extracts required for pre-messenger RNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

The microtubule binding domain of tau protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

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=85774

5 July 2018

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Tau protein and neurodegeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

Tau Proteins and Neurofibrillary Degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 July 2018

The disordered neuronal cytoskeleton in Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

5 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=85774

5 July 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=85774

29 October 2018

Neurofibrillary pathology of Alzheimer's disease and other tauopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

29 October 2018

Tau mutations cause frontotemporal dementias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

29 October 2018

Tau protein pathology in neurodegenerative diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=85774

29 October 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=85774

29 October 2018

beta-Tropomyosin pre-mRNA folding around a muscle-specific exon interferes with several steps of spliceosome assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age-Dependent Emergence and Progression of a Tauopathy in Transgenic Mice Overexpressing the Shortest Human Tau Isoform

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

U2 as well as U1 small nuclear ribonucleoproteins are involved in premessenger RNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Filamentous nerve cell inclusions in neurodegenerative diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of nucleotide sequences in splice site selection in eukaryotic pre-messenger RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of RNA secondary structure on alternative splicing of Pre-mRNA: Is folding limited to a region behind the transcribing RNA polymerase?

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preparation and fractionation of mammalian extracts active in pre-mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Control of Alternative Splicing by the Differential Binding of U1 Small Nuclear Ribonucleoprotein Particle

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural basis for the regulation of splicing of a yeast messenger RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

U1 snRNP can influence 3'-splice site selection as well as 5'-splice site selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice site choice and splicing efficiency are positively influenced by pre-mRNA intramolecular base pairing in yeast

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in U1 snRNA bypass the requirement for a cell type-specific RNA splicing factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of splicing at an intermediate step in the formation of the spliceosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/10805746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1128/MCB.20.11.4036-4048.2000

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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