Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations

Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations

Bibliographic Details
Main Authors:	Jian Sun, Chao Quan, Su-Shan Luo, Lei Zhou, Chong-Bo Zhao
Format:	Article
Language:	English
Published:	Wolters Kluwer 2017-01-01
Series:	Chinese Medical Journal
Online Access:	http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=24;spage=3021;epage=3022;aulast=Sun

Similar Items

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies
by: Xingao Wang, et al.
Published: (2019-12-01)

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy
by: Yan Fan, et al.
Published: (2022-06-01)

A naturally occurring mini-alanyl-tRNA synthetase
by: Titi Rindi Antika, et al.
Published: (2023-03-01)

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
by: Lara M. Marten, et al.
Published: (2020-12-01)

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.
by: Michael Nafisinia, et al.
Published: (2017-01-01)

A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review
by: Jian‐Yong Wang, et al.
Published: (2019-07-01)

Fine-Tuning of Alanyl-tRNA Synthetase Quality Control Alleviates Global Dysregulation of the Proteome
by: Paul Kelly, et al.
Published: (2020-10-01)

Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy
by: Bing-lei Wang, et al.
Published: (2022-10-01)

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
by: Liliya eEuro, et al.
Published: (2015-02-01)

Principles of tRNAAla Selection by Alanyl–tRNA Synthetase Based on the Critical G3·U70 Base Pair
by: Amit Kumar, et al.
Published: (2019-09-01)

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)
by: McLaughlin, H, et al.
Published: (2012)

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
by: McLaughlin, H, et al.
Published: (2012)

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)
by: Mclaughlin, H, et al.
Published: (2014)

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)
by: Mclaughlin, H, et al.
Published: (2014)

Pyrrolysyl-tRNA Synthetase, an Aminoacyl-tRNA Synthetase for Genetic Code Expansion
by: Ana Crnković, et al.
Published: (2016-06-01)

Aminoacyl-tRNA synthetases of the multi-tRNA synthetase complex and their role in tumorigenesis
by: Krishnendu Khan, et al.
Published: (2022-05-01)

A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency
by: Chun Wang, et al.
Published: (2020-06-01)

Alanyl-tRNA Synthetase Quality Control Prevents Global Dysregulation of the <named-content content-type="genus-species">Escherichia coli</named-content> Proteome
by: Paul Kelly, et al.
Published: (2019-12-01)

Mutation in methionyl-tRNA synthetase 1 causing pulmonary alveolar proteinosis
by: Manoj Madhusudan, et al.
Published: (2023-01-01)

Expanding a tyrosyl-tRNA synthetase assay to other aminoacyl-tRNA synthetases
by: Charles J. Richardson, et al.
Published: (2015-09-01)

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
by: McLaughlin, H, et al.
Published: (2010)

Aminoacyl-tRNA Synthetases: On Anti-Synthetase Syndrome and Beyond
by: Angeles S. Galindo-Feria, et al.
Published: (2022-05-01)

Chimeric design of pyrrolysyl-tRNA synthetase/tRNA pairs and canonical synthetase/tRNA pairs for genetic code expansion
by: Wenlong Ding, et al.
Published: (2020-06-01)

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy
by: Camilla Maffezzini, et al.
Published: (2019-06-01)

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis
by: Linyan Zhu, et al.
Published: (2023-10-01)

Seryl-tRNA Synthetases in Translation and Beyond
by: Marko Močibob, et al.
Published: (2016-06-01)

Roles of Aminoacyl-tRNA Synthetases in Cancer
by: Zheng Zhou, et al.
Published: (2020-11-01)

Rational Design of Hit Compounds Targeting Staphylococcus aureus Threonyl-tRNA Synthetase
by: Mariia Yu. Rybak, et al.
Published: (2021-09-01)

A Leucyl-tRNA Synthetase Urzyme: Authenticity of tRNA Synthetase Catalytic Activities and Promiscuous Phosphorylation of Leucyl-5′AMP
by: Jessica J. Hobson, et al.
Published: (2022-04-01)

Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD)
by: Fernando Freua, et al.
Published: (2015-01-01)

Evolution of Life on Earth: tRNA, Aminoacyl-tRNA Synthetases and the Genetic Code
by: Lei Lei, et al.
Published: (2020-03-01)

The phenotypic expression of mitochondrial tRNA-mutations can be modulated by mitochondrial leucyl-tRNA synthetase and the C-terminal domain thereof.
by: Carla eGiordano, et al.
Published: (2015-03-01)

Editorial: Noncanonical functions of Aminoacyl-tRNA synthetases
by: Litao Sun, et al.
Published: (2023-02-01)

Aminoacyl-tRNA synthetases in human health and disease
by: Alexandra K. Turvey, et al.
Published: (2022-10-01)

Common peptides study of aminoacyl-tRNA synthetases.
by: Assaf Gottlieb, et al.
Published: (2011-01-01)

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging
by: Zhang T, et al.
Published: (2021-05-01)

Practical Approaches to Genetic Code Expansion with Aminoacyl-tRNA Synthetase/tRNA Pairs
by: Anton Natter Perdiguero, et al.
Published: (2024-02-01)

Growth-Optimized Aminoacyl-tRNA Synthetase Levels Prevent Maximal tRNA Charging
by: Parker, Darren J., et al.
Published: (2021)

Mitochondrial lysyl-tRNA synthetase independent import of tRNA lysine into yeast mitochondria.
by: Naresh Babu V Sepuri, et al.
Published: (2012-01-01)

Seryl-tRNA Synthetases from Methanogenic Archaea: Suppression of Bacterial Amber Mutation and Heterologous Toxicity
by: Drasko Boko, et al.
Published: (2010-01-01)