(Q38083924)

28 August 2017

Mitochondrial aminoacyl-tRNA synthetases in human disease (English)

1 reference

28 August 2017

Henna Tyynismaa

2

0 references

author name string

Svetlana Konovalova

series ordinal

1

1 reference

28 August 2017

26 January 2013

1 reference

Molecular Genetics and Metabolism

28 August 2017

1 reference

28 August 2017

108

1 reference

28 August 2017

206-211

1 reference

28 August 2017

4

1 reference

Mechanism of protein biosynthesis in mammalian mitochondria

28 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Unique features of animal mitochondrial translation systems. The non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

7 January 2021

Aminoacyl-tRNA synthesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Aminoacyl-tRNA synthesis and translational quality control

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Mitochondria: in sickness and in health

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

A novel homozygous mutation of DARS2 may cause a severe LBSL variant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Dual-mode recognition of noncanonical tRNAs(Ser) by seryl-tRNA synthetase in mammalian mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Paradox of mistranslation of serine for alanine caused by AlaRS recognition dilemma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

New functions of aminoacyl-tRNA synthetases beyond translation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

Unique domain appended to vertebrate tRNA synthetase is essential for vascular development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

The multienzyme complex containing nine aminoacyl-tRNA synthetases is ubiquitous from Drosophila to mammals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.010

10.1016/J.YMGME.2013.01.010

7 January 2021

Identifiers

DOI

1 reference

28 August 2017

1 reference

PubMed ID

23433712