Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
about
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesFirst independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Novel AARS2 gene mutation producing leukodystrophy: a case report.Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria.The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.
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P2860
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
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Structural modeling of tissue- ...... tial effects on aminoacylation
@en
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase
@nl
type
label
Structural modeling of tissue- ...... tial effects on aminoacylation
@en
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase
@nl
prefLabel
Structural modeling of tissue- ...... tial effects on aminoacylation
@en
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase
@nl
P2093
P2860
P50
P356
P1476
Structural modeling of tissue- ...... tial effects on aminoacylation
@en
P2093
Anu Suomalainen
Jorge Asin-Cayuela
Joseph Chihade
Már Tulinius
Robert W Taylor
Svetlana Konovalova
Ulrike Schara
P2860
P356
10.3389/FGENE.2015.00021
P577
2015-02-06T00:00:00Z