The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. - Test2 - elhamkhani - TriplyDB

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

http://www.wikidata.org/entity/Q35524513

about

Newly recognized Mendelian disorders with rheumatic manifestations Controlling translation via modulation of tRNA levels TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies Mitochondrial transcript maturation and its disorders New monogenic autoinflammatory diseases--a clinical overview Hypomorphic 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 features Monogenic 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-6785470 RNA 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.

http://www.wikidata.org/entity/Q35524513

description

2015 nî lūn-bûn

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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի փետրվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

@wuu

name

The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.

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The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.

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type

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The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.

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The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.

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The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.

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The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.

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Human Molecular Genetics

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The 3' addition of CCA to mito ...... nucleotidyl transferase TRNT1.

@en

P2093

Alexandre Janer

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

Benjamin Ellazam

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

Catalina Maftei

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

Catherine Brunel-Guitton

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

Eric A Shoubridge

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

Florin Sasarman

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

Grant Mitchell

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

Hana Antonicka

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

Isabelle Thiffault

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

Neil Webb

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

P2860

Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Strong purifying selection in transmission of mammalian mitochondrial DNA

Crystal structures of the Bacillus stearothermophilus CCA-adding enzyme and its complexes with ATP or CTP

Mechanism for the definition of elongation and termination by the class II CCA-adding enzyme

Sequence and organization of the human mitochondrial genome

Cytoplasmic and mitochondrial tRNA nucleotidyltransferase activities are derived from the same gene in the yeast Saccharomyces cerevisiae.

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2841-2847

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10.1093/HMG/DDV044

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10

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24

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25652405

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4406295

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