Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansionMilitary service, deployments, and exposures in relation to amyotrophic lateral sclerosis etiology and survivalTreatment for familial amyotrophic lateral sclerosis/motor neuron diseaseTowards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examplesFUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitmentProtein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptideBiochemical and genetic evidence for a role of IGHMBP2 in the translational machineryMutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaDynamics of axonal mRNA transport and implications for peripheral nerve regenerationEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisC9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathologyIntegrative analysis of the melanoma transcriptomeMutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationThe genetics and neuropathology of frontotemporal lobar degenerationMutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisWhole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisAbundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion diseaseALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear importCharacterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Exome sequencing reveals VCP mutations as a cause of familial ALSExpanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSA hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDThe pathobiology of splicingConjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUSA new subtype of frontotemporal lobar degeneration with FUS pathologyTLS inhibits RNA polymerase III transcriptionNeuropathology of non-Alzheimer degenerative disordersFrom animal models to human disease: a genetic approach for personalized medicine in ALSInside out: the role of nucleocytoplasmic transport in ALS and FTLDMechanisms of FUS mutations in familial amyotrophic lateral sclerosisRecent advances in amyotrophic lateral sclerosisCopy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesPrion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative diseaseToward precision medicine in amyotrophic lateral sclerosisImmunoprecipitation and mass spectrometry defines an extensive RBM45 protein-protein interaction networkFUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysisALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium TriadA comprehensive review of amyotrophic lateral sclerosisAlterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS?Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia
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P2860
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
description
2009 nî lūn-bûn
@nan
2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@ast
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@en
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@nl
type
label
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@ast
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@en
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@nl
prefLabel
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@ast
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@en
Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@nl
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Mutations in the FUS/TLS gene ...... amyotrophic lateral sclerosis
@en
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A L Leclerc
B A Hosler
D McKenna-Yasek
E J Kasarskis
E Tamrazian
G A Rouleau
J E Landers
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10.1126/SCIENCE.1166066
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P577
2009-02-01T00:00:00Z