tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. - Wikidata - awgldk - TriplyDB

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

http://www.wikidata.org/entity/Q34810320

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy Multiple Layers of Stress-Induced Regulation in tRNA Biology Regulation of protein homeostasis in neurodegenerative diseases: the role of coding and non-coding genes Codon-biased translation can be regulated by wobble-base tRNA modification systems during cellular stress responses Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease Transfer RNA post-transcriptional processing, turnover, and subcellular dynamics in the yeast Saccharomyces cerevisiae Crystal structure and assembly of the functional Nanoarchaeum equitans tRNA splicing endonuclease Functional importance of Crenarchaea-specific extra-loop revealed by an X-ray structure of a heterotetrameric crenarchaeal splicing endonuclease tRNA biology charges to the front Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.The crystal structure of human GlnRS provides basis for the development of neurological disorders.Pontocerebellar hypoplasia.The genetics of cerebellar malformations Novel approaches to studying the genetic basis of cerebellar development Natural course of pontocerebellar hypoplasia type 2A.Transfer RNA and human disease Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.Disturbed Ca2+ homeostasis increases glutaminyl cyclase expression; connecting two early pathogenic events in Alzheimer's disease in vitro.MicroRNA-146a: a key regulator of astrocyte-mediated inflammatory response.Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.TSEN54 mutations cause pontocerebellar hypoplasia type 5 Cutting, dicing, healing and sealing: the molecular surgery of tRNA A sensitive alternative for microRNA in situ hybridizations using probes of 2'-O-methyl RNA + LNA.Exome sequencing can improve diagnosis and alter patient management.Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.Metazoan tRNA introns generate stable circular RNAs in vivo

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

http://www.wikidata.org/entity/Q34810320

description

2008 nî lūn-bûn

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2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

@ast

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

@nl

type

label

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

@nl

prefLabel

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

@ast

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

@en

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

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Nature Genetics

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

@en

P2093

Bernd Wollnik

http://www.w3.org/2001/XMLSchema#string

Birgit S Budde

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Bwee Tien Poll-The

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Christian Becker

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Colin D Ferrie

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Erik T te Beek

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Filip Roelenso

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Francesco Muntoni

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Fred van Ruissen

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Frits A Beemer

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scholarly article

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10.1038/NG.204

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9

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40

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Peter Nürnberg

Ingeborg Krägeloh-Mann

Gudrun Nürnberg

Eugen Boltshauser

Lina Basel-Vanagaite

Fred van Ruissen

Roberta Battini

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2008-09-01T00:00:00Z

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18711368

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