Tau gene mutations: dissecting the pathogenesis of FTDP-17. (Q34163214)

31 July 2017

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title

Tau gene mutations: dissecting the pathogenesis of FTDP-17. (English)

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31 July 2017

Maria Grazia Spillantini

series ordinal

2

object named as

Maria G Spillantini

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31 July 2017

Esther M Ingram

1

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31 July 2017

1 December 2002

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Trends in Molecular Medicine

31 July 2017

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31 July 2017

8

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31 July 2017

12

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31 July 2017

555-562

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Microtubule organization and dynamics dependent on microtubule-associated proteins

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: implications for Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Structure and novel exons of the human tau gene

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Domains of tau protein and interactions with microtubules

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Domains of tau protein, differential phosphorylation, and dynamic instability of microtubules

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Fetal-type phosphorylation of the tau in paired helical filaments

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau protein pathology in neurodegenerative diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau gene mutation K257T causes a tauopathy similar to Pick's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Distinct FTDP-17 missense mutations in tau produce tau aggregates and other pathological phenotypes in transfected CHO cells

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Missense point mutations of tau to segregate with FTDP-17 exhibit site-specific effects on microtubule structure in COS cells: a novel action of R406W mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

The structural basis of monoclonal antibody Alz50's selectivity for Alzheimer's disease pathology.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau gene mutation in familial progressive subcortical gliosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Functional effects of tau gene mutations deltaN296 and N296H

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Frontotemporal dementia with novel tau pathology and a Glu342Valtau mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Autosomal dominant dementia with widespread neurofibrillary tangles.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau pathology in a family with dementia and a P301L mutation in tau.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration").

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Proteasomal degradation of tau protein

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Genetic evidence for the involvement of tau in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Direct genetic evidence for involvement of tau in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

The tau gene A0 polymorphism in progressive supranuclear palsy and related neurodegenerative diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Further extension of the H1 haplotype associated with progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Muscle weakness, hyperactivity, and impairment in fear conditioning in tau-deficient mice.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

The slow axonal transport of the microtubule-associated protein tau and the transport rates of different isoforms and mutants in cultured neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Stable expression in Chinese hamster ovary cells of mutated tau genes causing frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

A nucleated assembly mechanism of Alzheimer paired helical filaments

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Analysis of tauopathies with transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Neurodegeneration with tau accumulation in a transgenic mouse expressing V337M human tau.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902440-1

7 January 2021

10.1016/S1471-4914(02)02440-1

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

12470988