(Q49037134)

18 February 2018

title

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). (English)

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18 February 2018

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14

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18 February 2018

Christopher A. Powell

object named as

Christopher A Powell

9

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Sarah Vergult

object named as

Sarah Vergult

10

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Björn Menten

2

object named as

Björn Menten

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18 February 2018

author name string

Arnaud V Vanlander

1

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18 February 2018

Joél Smet

3

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18 February 2018

Linda De Meirleir

4

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18 February 2018

Tom Sante

5

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18 February 2018

Boel De Paepe

6

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18 February 2018

Sara Seneca

7

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18 February 2018

Sarah F Pearce

8

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18 February 2018

Alex Michotte

11

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18 February 2018

Elien De Latter

12

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18 February 2018

Lies Vantomme

13

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18 February 2018

Rudy Van Coster

15

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18 February 2018

publication date

1 February 2015

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18 February 2018

published in

Human Mutation

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18 February 2018

volume

36

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18 February 2018

issue

2

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18 February 2018

page(s)

222-231

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18 February 2018

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

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The role of aminoacyl-tRNA synthetases in genetic diseases

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

21 January 2018

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Crystal structures at 2.5 angstrom resolution of seryl-tRNA synthetase complexed with two analogs of seryl adenylate

21 January 2018

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

21 January 2018

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Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

21 January 2018

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

21 January 2018

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A second class of synthetase structure revealed by X-ray analysis of Escherichia coli seryl-tRNA synthetase at 2.5 A.

21 January 2018

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Novel (ovario) leukodystrophy related to AARS2 mutations

21 January 2018

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Cytochrome c oxidase deficiency in Leigh syndrome.

21 January 2018

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The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

21 January 2018

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VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

21 January 2018

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

21 January 2018

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

21 January 2018

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Evidence for aminoacylation-induced conformational changes in human mitochondrial tRNAs.

21 January 2018

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A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

21 January 2018

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

21 January 2018

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Protein structure prediction on the Web: a case study using the Phyre server

21 January 2018

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Mitochondrial aminoacyl-tRNA synthetases in human disease

21 January 2018

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21 January 2018

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Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

21 January 2018

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A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

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Aminoacyl tRNA synthetases and their connections to disease

21 January 2018

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

21 January 2018

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Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

21 January 2018

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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

21 January 2018

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

21 January 2018

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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

21 January 2018

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Class II aminoacyl transfer RNA synthetases: crystal structure of yeast aspartyl-tRNA synthetase complexed with tRNA(Asp)

21 January 2018

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

21 January 2018

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Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

21 January 2018

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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

21 January 2018

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Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

21 January 2018

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Noncanonical functions of aminoacyl-tRNA synthetases

21 January 2018

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An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

21 January 2018

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

21 January 2018

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Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

21 January 2018

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The human lysyl-tRNA synthetase gene encodes both the cytoplasmic and mitochondrial enzymes by means of an unusual alternative splicing of the primary transcript

21 January 2018

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Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

21 January 2018

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Infantile mitochondrial encephalopathy

21 January 2018

1 reference

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Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

21 January 2018

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Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

21 January 2018

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Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

21 January 2018

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7 January 2021

Preparation and properties of succinate: ubiquinone oxidoreductase (complex II)

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7 January 2021

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

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https://api.crossref.org/works/10.1002%2FHUMU.22728

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.22728

7 January 2021

Biochemical and molecular investigations in respiratory chain deficiencies

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https://api.crossref.org/works/10.1002%2FHUMU.22728

7 January 2021

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy

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https://api.crossref.org/works/10.1002%2FHUMU.22728

7 January 2021

Identifiers

DOI

10.1002/HUMU.22728

1 reference

18 February 2018

PubMed ID

25385316

1 reference

18 February 2018