(Q42660644)

4 November 2017

title

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy (English)

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4 November 2017

7

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4 November 2017

Alexandra Götz

5

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Christopher J Carroll

object named as

Christopher J Carroll

6

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Liliya Euro

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Liliya Euro

3

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Fowzan S Alkuraya

8

object named as

Fowzan S Alkuraya

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4 November 2017

Jenni M Elo

1

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4 November 2017

Srujana S Yadavalli

2

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4 November 2017

Pirjo Isohanni

4

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4 November 2017

Johanna Uusimaa

9

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4 November 2017

Anders Paetau

10

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4 November 2017

Eric M Caruso

11

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4 November 2017

Helena Pihko

12

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4 November 2017

Michael Ibba

13

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4 November 2017

Anu Suomalainen

15

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4 November 2017

publication date

23 July 2012

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4 November 2017

published in

Human Molecular Genetics

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4 November 2017

volume

21

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4 November 2017

issue

20

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4 November 2017

page(s)

4521-4529

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Mechanisms of mitochondrial diseases

4 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Human diseases with impaired mitochondrial protein synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Infantile mitochondrial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

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/10.1093%2FHMG%2FDDS294

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

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/10.1093%2FHMG%2FDDS294

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/10.1093%2FHMG%2FDDS294

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/10.1093%2FHMG%2FDDS294

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Crystal structure of human mitochondrial PheRS complexed with tRNA(Phe) in the active "open" state

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Large-scale movement of functional domains facilitates aminoacylation by human mitochondrial phenylalanyl-tRNA synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

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/10.1093%2FHMG%2FDDS294

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/10.1093%2FHMG%2FDDS294

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Loss of editing activity during the evolution of mitochondrial phenylalanyl-tRNA synthetase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Mechanism of tRNA-dependent editing in translational quality control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Comparison of solution-based exome capture methods for next generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

Post-transfer editing in vitro and in vivo by the beta subunit of phenylalanyl-tRNA synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS294

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS294

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4 November 2017

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