A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
about
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseReprogramming the genetic code: The emerging role of ribosomal frameshifting in regulating cellular gene expressionRibosomal frameshifting in the CCR5 mRNA is regulated by miRNAs and the NMD pathway.Cell cycle control (and more) by programmed -1 ribosomal frameshifting: implications for disease and therapeuticsMechanism and Regulation of Protein Synthesis in Saccharomyces cerevisiae.Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Ribosomes in the balance: structural equilibrium ensures translational fidelity and proper gene expression.Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.Mutations in TGM6 induce the unfolded protein response in SCA35.Polyglutamine spinocerebellar ataxias - from genes to potential treatments.mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.How does oncogene transformation render tumor cells hypersensitive to nutrient deprivation?Importance of diphthamide modified EF2 for translational accuracy and competitive cell growth in yeast
P2860
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P2860
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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name
A conserved eEF2 coding varian ...... ibility to proteostatic insult
@ast
A conserved eEF2 coding varian ...... ibility to proteostatic insult
@en
type
label
A conserved eEF2 coding varian ...... ibility to proteostatic insult
@ast
A conserved eEF2 coding varian ...... ibility to proteostatic insult
@en
prefLabel
A conserved eEF2 coding varian ...... ibility to proteostatic insult
@ast
A conserved eEF2 coding varian ...... ibility to proteostatic insult
@en
P2093
P2860
P50
P356
P1476
A conserved eEF2 coding varian ...... ibility to proteostatic insult
@en
P2093
April Peterson
Christopher D Brown
Christopher M Gomez
Guo-Yun Yu
H Brent Clark
Haipeng Zhu
Katherine E Hekman
Kevin P White
Stefan M Pulst
Thomas D Bird
P2860
P304
P356
10.1093/HMG/DDS392
P577
2012-09-21T00:00:00Z