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