(Q36360406)

English

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

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

0 references

Parkinson's disease

1 reference

based on heuristic

inferred from title

frontotemporal dementia

1 reference

based on heuristic

inferred from title

author name string

I D'Souza

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

P Poorkaj

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

M Hong

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

D Nochlin

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

V M Lee

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

T D Bird

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

G D Schellenberg

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

language of work or name

0 references

publication date

1 May 1999

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

number of pages

6

1 reference

based on heuristic

inferred from page(s)

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

96

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

10

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

5598-5603

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

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=21906

30 September 2017

The exon splicing silencer in human immunodeficiency virus type 1 Tat exon 3 is bipartite and acts early in spliceosome assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 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=21906

30 September 2017

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=21906

30 September 2017

The Regulation of Splice-Site Selection, and Its Role in Human Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

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=21906

30 September 2017

Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

On finding all suboptimal foldings of an RNA molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

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=21906

30 September 2017

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment 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=21906

30 September 2017

Neuropathological stageing of Alzheimer-related changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

30 September 2017

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=21906

28 June 2018

Autosomal dominant dementia with widespread neurofibrillary tangles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

28 June 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=21906

28 June 2018

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

28 June 2018

Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

28 June 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=21906

22 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=21906

22 September 2018

Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

22 September 2018

The role of exon sequences in splice site selection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

22 September 2018

Abnormal tau phosphorylation at Ser396 in Alzheimer's disease recapitulates development and contributes to reduced microtubule binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

22 September 2018

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

22 September 2018

Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

22 September 2018

Hereditary frontotemporal dementia is linked to chromosome 17q21?q22: A genetic and clinicopathological study of three dutch families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21906

5 December 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Domains of tau protein and interactions with microtubules

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SR proteins can compensate for the loss of U1 snRNP functions in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphosphorylated tau proteins differentiate corticobasal degeneration and Pick's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles

1 reference

https://pubmed.ncbi.nlm.nih.gov/10318930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.96.10.5598

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1999PNAS...96.5598D

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

0 references

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