The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
about
Newly recognized Mendelian disorders with rheumatic manifestationsControlling translation via modulation of tRNA levelsTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesMitochondrial transcript maturation and its disordersNew monogenic autoinflammatory diseases--a clinical overviewHypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.TRNT1 deficiency: clinical, biochemical and molecular genetic featuresMonogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.Genetically defined autoinflammatory diseases.Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.Mitochondrial dysfunction and potential anticancer therapy.A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.TRNT1 polymerizes CCA at the 3' end of pre-tRNA_R-HSA-6785470RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis
P2860
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P2860
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.
@ast
The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.
@en
type
label
The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.
@ast
The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.
@en
prefLabel
The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.
@ast
The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.
@en
P2093
P2860
P356
P1476
The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.
@en
P2093
Alexandre Janer
Benjamin Ellazam
Catalina Maftei
Catherine Brunel-Guitton
Eric A Shoubridge
Florin Sasarman
Grant Mitchell
Hana Antonicka
Isabelle Thiffault
P2860
P304
P356
10.1093/HMG/DDV044
P577
2015-02-04T00:00:00Z