CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
about
Mechanisms of FUS mutations in familial amyotrophic lateral sclerosisSmall Non-coding Transfer RNA-Derived RNA Fragments (tRFs): Their Biogenesis, Function and Implication in Human DiseasesRegulation of protein homeostasis in neurodegenerative diseases: the role of coding and non-coding genestRNA fragments in human health and diseaseNon-coding RNA in neural function, disease, and agingModify or die?--RNA modification defects in metazoansA drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesBiallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.The genetics of cerebellar malformationsAbsence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutationRNA metabolism in neurodegenerative disease.Healing for destruction: tRNA intron degradation in yeast is a two-step cytoplasmic process catalyzed by tRNA ligase Rlg1 and 5'-to-3' exonuclease Xrn1.tRNAs: new tricks from old dogs.Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyBRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Fruit flies in biomedical research.Cutting, dicing, healing and sealing: the molecular surgery of tRNANovel RNA modifications in the nervous system: form and functionGlobal analysis of RNA cleavage by 5'-hydroxyl RNA sequencing.Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismTissue- and Time-Specific Expression of Otherwise Identical tRNA GenesThe Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53Efficient Test and Visualization of Multi-Set IntersectionstRNA processing defects induce replication stress and Chk2-dependent disruption of piRNA transcription.The Many Virtues of tRNA-derived Stress-induced RNAs (tiRNAs): Discovering Novel Mechanisms of Stress Response and Effect on Human HealthGenes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.RNA Polymerase III Advances: Structural and tRNA Functional Views.Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.Handling tRNA introns, archaeal way and eukaryotic way.CLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.Emerging roles of tRNA in adaptive translation, signalling dynamics and disease.Structures of bacterial polynucleotide kinase in a michaelis complex with nucleoside triphosphate (NTP)-Mg2+ and 5'-OH RNA and a mixed substrate-product complex with NTP-Mg2+ and a 5'-phosphorylated oligonucleotide.New zebrafish models of neurodegeneration.Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.Biogenesis and Function of Transfer RNA-Related Fragments (tRFs).From tRNA to miRNA: RNA-folding contributes to correct entry into noncoding RNA pathways.MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
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P2860
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@ast
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@en
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@en-gb
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@nl
type
label
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@ast
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@en
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@en-gb
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@nl
prefLabel
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@ast
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@en
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@en-gb
CLP1 founder mutation links tR ...... elopment and neurodegeneration
@nl
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CLP1 founder mutation links tR ...... elopment and neurodegeneration
@en
P2093
Ahmet Okay Caglayan
Beyhan Tuysuz
Caner Caglar
Christiane Zweier
Christopher R Trotta
Eric Scott
Fesih Aktar
Huseyin Caksen
J Leonie Cazemier
Jennifer L Silhavy
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P304
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10.1016/J.CELL.2014.03.049
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P5008
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2014-04-24T00:00:00Z