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

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

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

http://www.wikidata.org/entity/Q36360406

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Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)RNA helicase p68 (DDX5) regulates tau exon 10 splicing by modulating a stem-loop structure at the 5' splice site Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Role of RNA structure in regulating pre-mRNA splicing CNV and nervous system diseases--what's new?The pathobiology of splicing Functional MAPT haplotypes: bridging the gap between genotype and neuropathology Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations Therapeutic and diagnostic challenges for frontotemporal dementia The role of tau in neurodegenerative diseases and its potential as a therapeutic target Antisense oligonucleotides: treating neurodegeneration at the level of RNA Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-β1 Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease Ikaros gene expression and leukemia Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a SRp30c.SRp55 complex that either recruits or antagonizes htra2beta1 Age-dependent induction of congophilic neurofibrillary tau inclusions in tau transgenic mice Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Delta280K AND N279K Microtubule-dependent oligomerization of tau. Implications for physiological tau function and tauopathies Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis Neurodegeneration and defective neurotransmission in a Caenorhabditis elegans model of tauopathy.Tau isoform regulation is region- and cell-specific in mouse brain.Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis.Modulation of microtubule dynamics by tau in living cells: implications for development and neurodegeneration A new family with frontotemporal dementia with intronic 10+3 splice site mutation in the tau gene: neuropathology and molecular effects.Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia.Differentiated evolutionary rates in alternative exons and the implications for splicing regulation.Alternative splicing of exon 10 in the tau gene as a target for treatment of tauopathies.SRRM2, a potential blood biomarker revealing high alternative splicing in Parkinson's disease.Transgenic models of tauopathies and synucleinopathies.Genomic features defining exonic variants that modulate splicing.Mouse models for human disease.Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

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P2860

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

http://www.wikidata.org/entity/Q36360406

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1999 nî lūn-bûn

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Missense and silent tau gene m ...... A splicing regulatory elements

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Missense and silent tau gene m ...... A splicing regulatory elements

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Missense and silent tau gene m ...... A splicing regulatory elements

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D Nochlin

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G D Schellenberg

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I D'Souza

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M Hong

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P Poorkaj

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P2860

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

Neuropathological stageing of Alzheimer-related changes

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

On finding all suboptimal foldings of an RNA molecule

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

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

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

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

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

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

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12979588

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10318930

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P921

Parkinson's disease

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21906

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