Add to ORKGABSTRACT: By way of whole-exome sequencing, we iden-tified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated deficiency of the mitochondrial respiratory chain (MRC) complex I and compound heterozygous mutations in TARS2 in two siblings presenting with axial hypoto-nia and severe psychomotor delay associated with mul-tiple MRC defects. The nucleotide variants segregated within the families, were absent in Single Nucleotide Polymorphism (SNP) databases and are predicted to be deleterious. The amount of VARS2 and TARS2 pro-teins and valyl-tRNA and threonyl-tRNA levels were decreased in samples of afflicted patients according to the genetic defect. Expression of the corresponding wild...
Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and de...
We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA...
Abstract: The VARS2 gene encodes a mitochondrial valyl-transfer RNA synthetase which is used in mito...
By way of whole-exome sequencing, we identified a homozygous missense mutation in VARS2 in one subje...
By way of whole-exome sequencing we identified: a homozygous missense mutation in VARS2, in one subj...
Research reportFree PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226392/Introduction: ...
In recent years, an increasing number of mitochondrial disorders have been associated with mutations...
In recent years, an increasing number of mitochondrial disorders have been associated with mutations...
In recent years, an increasing number of mitochondrial disorders have been associated with mutations...
Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient amin...
International audienceBackground and purpose: Mitochondrial aminoacyl-tRNA synthetases-encoded by AR...
Objective: We report a consanguineous family with 2 affected individuals whose clinical symptoms clo...
ABSTRACT: Mutations in the mitochondrial aminoacyl-tRNA synthetases (ARSs) are associated with a str...
Abstract Background Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important cau...
Mutations in mitochondrial aminoacyl-tRNA synthetases are an increasingly recognized cause of human ...
Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and de...
We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA...
Abstract: The VARS2 gene encodes a mitochondrial valyl-transfer RNA synthetase which is used in mito...
By way of whole-exome sequencing, we identified a homozygous missense mutation in VARS2 in one subje...
By way of whole-exome sequencing we identified: a homozygous missense mutation in VARS2, in one subj...
Research reportFree PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226392/Introduction: ...
In recent years, an increasing number of mitochondrial disorders have been associated with mutations...
In recent years, an increasing number of mitochondrial disorders have been associated with mutations...
In recent years, an increasing number of mitochondrial disorders have been associated with mutations...
Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient amin...
International audienceBackground and purpose: Mitochondrial aminoacyl-tRNA synthetases-encoded by AR...
Objective: We report a consanguineous family with 2 affected individuals whose clinical symptoms clo...
ABSTRACT: Mutations in the mitochondrial aminoacyl-tRNA synthetases (ARSs) are associated with a str...
Abstract Background Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important cau...
Mutations in mitochondrial aminoacyl-tRNA synthetases are an increasingly recognized cause of human ...
Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and de...
We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA...
Abstract: The VARS2 gene encodes a mitochondrial valyl-transfer RNA synthetase which is used in mito...