Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

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http://www.wikidata.org/entity/Q42008321
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.
P2860

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

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http://www.wikidata.org/entity/Q42008321
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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
P1433
P1476
P2093
P2860
P304
P31
P356
P478
P50
P577
P5875
P698
P932
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P1433
P1476
Structural modeling of tissue- ...... tial effects on aminoacylation
@en
P2093
P2860
P304
P31
P356
P478
P50
P577
P5875
P698
P932