(Q57041269)

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Aminoacyl-tRNA synthetase complexes: molecular multitasking revealed

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Aminoacyl-tRNA synthetase complexes: beyond translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Aminoacyl tRNA synthetases and their connections to disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Radioactive labeling of mitochondrial translation products in cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mitochondrial DNA mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mitochondrial DNA mutations and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

Acute infantile liver failure due to mutations in the TRMU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

7 January 2021

CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

7 January 2021

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

7 January 2021

Molecular weights of mitochondrial and cytoplasmic aminoacyl-tRNA synthetases of beef liver and their complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22098

7 January 2021