Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
about
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyRegulation of protein homeostasis in neurodegenerative diseases: the role of coding and non-coding genesEXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.The crystal structure of human GlnRS provides basis for the development of neurological disorders.Transfer RNA and human diseaseNeuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.RNA ligation in neurons by RtcB inhibits axon regeneration.Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.Handling tRNA introns, archaeal way and eukaryotic way.CLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.New zebrafish models of neurodegeneration.Zebrafish models in neuropsychopharmacology and CNS drug discovery.Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation.Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
P2860
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P2860
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Impairment of the tRNA-splicin ...... of pontocerebellar hypoplasia.
@en
type
label
Impairment of the tRNA-splicin ...... of pontocerebellar hypoplasia.
@en
prefLabel
Impairment of the tRNA-splicin ...... of pontocerebellar hypoplasia.
@en
P2093
P50
P356
P1476
Impairment of the tRNA-splicin ...... of pontocerebellar hypoplasia.
@en
P2093
Aleksander Sizarov
Danica Zivkovic
Maarten Kamermans
Paula van Tijn
Yasmin Namavar
P304
P356
10.1093/HMG/DDR034
P577
2011-01-27T00:00:00Z