Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
about
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationMechanisms of FUS mutations in familial amyotrophic lateral sclerosisSmall Non-coding Transfer RNA-Derived RNA Fragments (tRFs): Their Biogenesis, Function and Implication in Human DiseasesBeyond the Ribosome: Extra-translational Functions of tRNA FragmentsRegulation of protein homeostasis in neurodegenerative diseases: the role of coding and non-coding genestRNA fragments in human health and diseaseEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseModify or die?--RNA modification defects in metazoansA drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesThe 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.Endogenous tRNA-Derived Fragments Suppress Breast Cancer Progression via YBX1 Displacement.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.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 AtrophyThe mammalian tRNA ligase complex mediates splicing of XBP1 mRNA and controls antibody secretion in plasma cellsFruit flies in biomedical research.Germ-line and somatic DICER1 mutations in pineoblastoma.Cutting, dicing, healing and sealing: the molecular surgery of tRNANovel RNA modifications in the nervous system: form and functionAssessing structural variation in a personal genome-towards a human reference diploid genome.Global analysis of RNA cleavage by 5'-hydroxyl RNA sequencing.RNA Polymerase III Output Is Functionally Linked to tRNA Dimethyl-G26 Modification.tRNA processing defects induce replication stress and Chk2-dependent disruption of piRNA transcription.POGZ truncating alleles cause syndromic intellectual disability.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.Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.Biogenesis and Function of Transfer RNA-Related Fragments (tRFs).From tRNA to miRNA: RNA-folding contributes to correct entry into noncoding RNA pathways.
P2860
Q24295268-97B494D0-F800-4D70-B0A2-68698FBF3D56Q26749169-469C717B-E843-43A9-A2EE-EA09B18C963FQ26766672-C54D61C0-B0DC-4DFE-B9FF-B1F4D4E129E6Q26769608-08FD790B-4F90-45BD-86A2-4214D6DD75E8Q26799208-49017E69-E259-4BED-A02D-06B0DE7A3807Q26824181-FB49610E-B5A2-4B70-B364-C3B418D3D704Q26991754-F67DF973-619E-4B97-A38D-FE4CF843958CQ28087742-D7D82F34-8B51-4B3B-A6BB-43E01FE8DD6AQ28114951-C2BDBADB-E2BF-4042-AEC6-563ECA3D4F51Q31094282-12D01492-8EC7-4487-AF50-5342ECE564B8Q33564675-AD73FF97-9D1E-48D6-9DF7-52DD8384C1DAQ33746283-2FE96B3A-4054-4F27-A638-D599C718FB67Q33917436-01ECBE0C-533F-4097-8A2D-F32327194097Q34332411-6D7FEA82-9291-4C53-B1C5-30348A2533EEQ34332444-85CA52D1-C749-4B46-AF8A-277CB5F69A58Q34475743-3F3D79CE-FBC3-47A0-A0DE-59B42CE9DAC5Q34478056-8799858E-E7CD-4189-BDBE-40F282174394Q34478269-BD769AF5-C566-4D3A-A079-676B3359F1EDQ34516932-23468B2C-C416-4001-A489-F4737E5CFE47Q34807567-3B191D17-EABE-4318-B310-C89101CEACF8Q35145708-670CA326-7E4E-40EA-930F-A5AE92D6BA1DQ35240049-527AE9B1-7008-479C-8A24-63B5633E9844Q35418251-09B936EF-4C70-41B9-B9CB-3236F22EB202Q35473380-36A6EB97-1A3A-40A7-8096-E33B328C6E93Q35607005-9B1F58B0-6FAB-4F4C-AB93-39ABCBCDB856Q35639750-BD9896EC-04A4-410C-A1BE-EC81B183FEF4Q35882498-DE49BF1F-D62D-49F4-B86A-706A4C729137Q36394957-7603E628-93FE-4B4A-8FF2-FC65AE80A21DQ36433133-B49CEB59-93DF-4320-94C3-7635ACA392BFQ36444185-1949C9FF-1ED8-45A5-8FB5-CD5E5D8D3256Q36775218-96C88139-B01B-458A-A485-55B622A6EFF7Q36944786-3E82D189-AB3B-4FA2-8EAC-4D3751BE61AEQ37220362-64B07E56-7D43-4EBF-B4BF-CE0B6E1FAA9EQ38234969-E5F0FC1F-A875-4149-BF46-349D0F37E7D3Q38241769-FAA47A75-BBEF-4913-8BD4-28CD2B6924EFQ38298151-D20CDECF-EB1A-405F-8A1B-C3F568D9597EQ38303859-692EDB06-11CC-4AAF-8426-2B6F5E784DC1Q38617096-0159EC69-1C11-40F0-AB82-BA86180A0961Q38855205-FFD90D76-43A7-4686-BF45-1BBC941F196EQ38891726-A0BEA787-A10F-468E-986A-09FB96DF9E8E
P2860
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
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
Human CLP1 mutations alter tRN ...... entral nervous system function
@ast
Human CLP1 mutations alter tRN ...... entral nervous system function
@en
Human CLP1 mutations alter tRN ...... entral nervous system function
@en-gb
Human CLP1 mutations alter tRN ...... entral nervous system function
@nl
type
label
Human CLP1 mutations alter tRN ...... entral nervous system function
@ast
Human CLP1 mutations alter tRN ...... entral nervous system function
@en
Human CLP1 mutations alter tRN ...... entral nervous system function
@en-gb
Human CLP1 mutations alter tRN ...... entral nervous system function
@nl
prefLabel
Human CLP1 mutations alter tRN ...... entral nervous system function
@ast
Human CLP1 mutations alter tRN ...... entral nervous system function
@en
Human CLP1 mutations alter tRN ...... entral nervous system function
@en-gb
Human CLP1 mutations alter tRN ...... entral nervous system function
@nl
P2093
P2860
P50
P3181
P1433
P1476
Human CLP1 mutations alter tRN ...... entral nervous system function
@en
P2093
Adnan Yuksel
Alper Gezdirici
Andreas Hess
Baylor Hopkins Center for Mendelian Genomics
Christian Bernreuther
Claudia Kronnerwetter
Daniel Briskin
Davut Pehlivan
Donna M Muzny
Ender Karaca
P2860
P304
P3181
P356
10.1016/J.CELL.2014.02.058
P407
P50
P577
2014-04-24T00:00:00Z