Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways (Q45465382)

14 December 2017

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways (English)

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14 December 2017

8

Gert C Scheper

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14 December 2017

3

Emiel Polder

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14 December 2017

Laura van Berge

1

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14 December 2017

Josta Kevenaar

2

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14 December 2017

Agnès Gaudry

4

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14 December 2017

Catherine Florentz

5

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14 December 2017

Marie Sissler

6

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14 December 2017

Marjo S van der Knaap

7

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14 December 2017

language of work or name

English

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publication date

1 March 2013

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14 December 2017

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14 December 2017

450

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14 December 2017

2

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14 December 2017

345-350

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A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

14 December 2017

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

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/10.1042%2FBJ20121564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

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/10.1042%2FBJ20121564

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/10.1042%2FBJ20121564

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

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/10.1042%2FBJ20121564

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/10.1042%2FBJ20121564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Re-designed N-terminus enhances expression, solubility and crystallizability of mitochondrial protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Mfold web server for nucleic acid folding and hybridization prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

Synthesis of aspartyl-tRNA(Asp) in Escherichia coli--a snapshot of the second step

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20121564

21 January 2018

Identifiers

DOI

10.1042/BJ20121564

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14 December 2017

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