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Mutations in Tau Gene Exon 10 Associated with FTDP-17 Alter the Activity of an Exonic Splicing Enhancer to Interact with Tra2β

Data up to Jan 2025

Published2003
Citations107
References77

Total Citations Per Year

Abstract

References (77)

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

1983 • 11,902 citations

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

1998 • 3,377 citations

RNA interference is mediated by 21- and 22-nucleotide RNAs

2001 • 3,271 citations

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

1989 • 2,308 citations

Neurodegenerative Tauopathies

2001 • 2,276 citations

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

1998 • 1,440 citations

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1998 • 1,344 citations

Sorting out the complexity of SR protein functions

2000 • 1,064 citations

Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17

1998 • 954 citations

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

1992 • 936 citations

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

1993 • 856 citations

Physical and chemical properties of purified tau factor and the role of tau in microtubule assembly

1977 • 834 citations

SR proteins: a conserved family of pre-mRNA splicing factors.

1992 • 766 citations

Excision of an intact intron as a novel lariat structure during pre-mRNA splicing in vitro

1984 • 761 citations

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

1993 • 741 citations

Tau protein function in living cells.

1986 • 727 citations

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

2000 • 689 citations

The superfamily of arginine/serine-rich splicing factors.

1995 • 671 citations

SR proteins and splicing control.

1996 • 668 citations

Structure and novel exons of the human .tau. gene

1992 • 587 citations

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

1999 • 506 citations

Pre-mRNA splicing in the new millennium

2001 • 477 citations

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

1998 • 469 citations

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

1998 • 464 citations

Multiple factors including the small nuclear ribonucleoproteins U1 and U2 are necessary for Pre-mRNA splicing in vitro

1985 • 442 citations

High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands

1999 • 419 citations

Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in Tau

1999 • 418 citations

Expression of multiple tau isoforms and microtubule bundle formation in fibroblasts transfected with a single tau cDNA.

1989 • 354 citations

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

1997 • 334 citations

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

1999 • 294 citations

Accelerated filament formation from tau protein with specific FTDP‐17 missense mutations

1999 • 285 citations

Tau Pathology in Two Dutch Families with Mutations in the Microtubule-Binding Region of Tau

1998 • 281 citations

Functional interactions between the proline-rich and repeat regions of tau enhance microtubule binding and assembly.

1997 • 270 citations

Filamentous nerve cell inclusions in neurodegenerative diseases

1998 • 261 citations

Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism

1998 • 236 citations

Functional organization of microtubule-associated protein tau. Identification of regions which affect microtubule growth, nucleation, and bundle formation in vitro.

1993 • 219 citations

Structural and Functional Differences between 3-Repeat and 4-Repeat Tau Isoforms

2000 • 218 citations

Human Tra2 Proteins Are Sequence-Specific Activators of Pre-mRNA Splicing

1998 • 212 citations

Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation

1999 • 207 citations

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

1999 • 203 citations

Sequence-specific RNA binding by an SR protein requires RS domain phosphorylation: Creation of an SRp40-specific splicing enhancer

1997 • 192 citations

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

1993 • 192 citations

Finding splice sites within a wilderness of RNA.

1995 • 188 citations

Microtubule bundling by tau proteins in vivo: analysis of functional domains.

1992 • 186 citations

Overexpression of the SR proteins ASF/SF2 and SC35 influences alternative splicing in vivo in diverse ways.

1995 • 174 citations

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

2001 • 161 citations

TauGene Mutation K257T Causes a Tauopathy Similar to Pick's Disease

2000 • 160 citations

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

1996 • 157 citations

A distinct familial presenile dementia with a novel missense mutation in the tau gene

1999 • 156 citations

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

1998 • 144 citations

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

2000 • 137 citations

SR-related proteins and the processing of messenger RNA precursors

1999 • 133 citations

Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations Associated with the Inherited Dementia Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17

2000 • 131 citations

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

2001 • 129 citations

An Intron Element Modulating 5′ Splice Site Selection in the hnRNP A1 Pre-mRNA Interacts with hnRNP A1

1997 • 123 citations

A novel mutation at position +12 in the intron following Exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)

2000 • 109 citations

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

1994 • 107 citations

The ‘jaws’ model of tau-microtubule interaction examined in CHO cells

1997 • 101 citations

Frontotemporal dementia with novel tau pathology and a Glu342Valtau mutation

2000 • 93 citations

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

2001 • 92 citations

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

2002 • 90 citations

Complex Regulation of Tau Exon 10, Whose Missplicing Causes Frontotemporal Dementia

2000 • 88 citations

Structural basis for recognition of the RNA major groove in the tau exon 10 splicing regulatory element by aminoglycoside antibiotics

2000 • 86 citations

Ischemia Induces a Translocation of the Splicing Factor tra2-β1 and Changes Alternative Splicing Patterns in the Brain

2002 • 86 citations

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22

1997 • 82 citations

Missense tau mutations identified in FTDP-17 have a small effect on tau–microtubule interactions

2000 • 80 citations

Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11‐splice site in the tau gene

2001 • 79 citations

Identification of a Bidirectional Splicing Enhancer: Differential Involvement of SR Proteins in 5′ or 3′ Splice Site Activation

1999 • 78 citations

Molecular Cloning of htra2-beta-1 and htra2-beta-2, Two Human Homologs oftra-2Generated by Alternative Splicing

1997 • 76 citations

Caspase-2 pre-mRNA alternative splicing: Identification of an intronic element containing a decoy 3′ acceptor site

2001 • 68 citations

Functions of SR proteins in the U12-dependent AT-AC pre-mRNA splicing pathway

2001 • 62 citations

A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3‐splice site mutation in the tau gene: clinical and pathological features

2000 • 42 citations

Exonic splicing enhancers contribute to the use of both 3′ and 5′ splice site usage of rat β-tropomyosin pre-mRNA

1999 • 40 citations

Pre-mRNA Splicing by the Essential Drosophila Protein B52: Tissue and Target Specificity

2000 • 31 citations

Construction of 4-Thiouridine Site-Specifically Substituted RNAs for Cross-Linking Studies

1999 • 28 citations

An element in the 5' common exon of the NCAM alternative splicing unit interacts with SR proteins and modulates 5' splice site selection

1999 • 25 citations

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

1993 • 23 citations

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