(Q46392682)

21 December 2017

title

Identification of a mutation in LARS as a novel cause of infantile hepatopathy (English)

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21 December 2017

author

Paul A McGettigan

2

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21 December 2017

Jacintha O'Sullivan

8

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21 December 2017

Michael McDermott

4

object named as

Michael McDermott

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Niamh Lynam-Lennon

object named as

Niamh Lynam-Lennon

3

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Sean Ennis

object named as

Sean Ennis

11

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author name string

Jillian P Casey

1

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21 December 2017

Regina Regan

5

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21 December 2017

Judith Conroy

6

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21 December 2017

Billy Bourke

7

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21 December 2017

Ellen Crushell

9

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21 December 2017

SallyAnn Lynch

10

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21 December 2017

publication date

26 April 2012

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21 December 2017

Molecular Genetics and Metabolism

published in

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21 December 2017

volume

106

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21 December 2017

issue

3

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21 December 2017

page(s)

351-358

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21 December 2017

New North American research network focuses on biliary atresia and neonatal liver disease

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7 January 2021

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Incorporation of norvaline at leucine positions in recombinant human hemoglobin expressed in Escherichia coli

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The proofreading of hydroxy analogues of leucine and isoleucine by leucyl-tRNA synthetases from E. coli and yeast

7 January 2021

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Translation matters: protein synthesis defects in inherited disease

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Tyrosine-to-cysteine modification of human alpha-synuclein enhances protein aggregation and cellular toxicity

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The Drosophila Toll-9 activates a constitutive antimicrobial defense

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Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia

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Enzyme hyperspecificity. Rejection of threonine by the valyl-tRNA synthetase by misacylation and hydrolytic editing

7 January 2021

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Isolated CP1 domain of Escherichia coli leucyl-tRNA synthetase is dependent on flanking hinge motifs for amino acid editing activity

7 January 2021

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7 January 2021

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Modular pathways for editing non-cognate amino acids by human cytoplasmic leucyl-tRNA synthetase

7 January 2021

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Amino acid toxicities of Escherichia coli that are prevented by leucyl-tRNA synthetase amino acid editing

7 January 2021

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Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

7 January 2021

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Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers

7 January 2021

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Aminoacyl-tRNA synthetase complexes: molecular multitasking revealed

7 January 2021

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Aminoacyl-tRNA synthetases are multivalent suppressors of defects due to human equivalent mutations in yeast mt tRNA genes.

7 January 2021

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The role of aminoacyl-tRNA synthetases in genetic diseases

7 January 2021

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Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes

7 January 2021

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Branched-chain amino acid enriched supplements as therapy for liver disease

7 January 2021

1 reference

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10.1016/J.YMGME.2012.04.017

7 January 2021

Identifiers

DOI

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21 December 2017

PubMed ID

22607940

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21 December 2017