Literature DB >> 28322004

Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.

J-M Lee1, H-J Yang1, J-H Kwon1, W-J Kim1, S-Y Kim1, E-M Lee1, J-Y Park1, Y C Weon2, S H Park3, B-J Gwon1, J-C Ryu1, S-T Lee4, H-J Kim4, B Jeon4.   

Abstract

Entities:  

Keywords:  zzm321990AARS2zzm321990; aminoacyl-tRNA synthetase; exome sequencing; magnetic resonance imaging; ovarioleukodystrophy

Year:  2017        PMID： 28322004     DOI： 10.1111/ene.13245

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  12 in total

Review 1.  Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Authors:  Rebecca Meyer-Schuman; Anthony Antonellis
Journal:  Hum Mol Genet       Date:  2017-10-01       Impact factor: 6.150

2.  Identification of extremely rare mitochondrial disorders by whole exome sequencing.

Authors:  Go Hun Seo; Arum Oh; Eun Na Kim; Yeonmi Lee; Jumi Park; Taeho Kim; Young-Min Lim; Gu-Hwan Kim; Chong Jai Kim; Han-Wook Yoo; Eunju Kang; Beom Hee Lee
Journal:  J Hum Genet       Date:  2019-08-26       Impact factor: 3.172

Review 3.  Mitochondrial Dysfunction in Primary Ovarian Insufficiency.

Authors:  Dov Tiosano; Jason A Mears; David A Buchner
Journal:  Endocrinology       Date:  2019-10-01       Impact factor: 4.736

4.  AARS2-Related Leukodystrophy: a Case Report and Literature Review.

Authors:  Xiao Zhang; Jie Li; Yanyan Zhang; Meina Gao; Tao Peng; Tian Tian
Journal:  Cerebellum       Date:  2022-01-27       Impact factor: 3.847

Review 5.  The emerging neurological spectrum of AARS2-associated disorders.

Authors:  Sahyli Perez Parra; Stephan H Heckers; William R Wilcox; Colin David Mcknight; H A Jinnah
Journal:  Parkinsonism Relat Disord       Date:  2021-11-10       Impact factor: 4.891

6.  A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.

Authors:  Chengyuan Song; Linliu Peng; Shengjun Wang; Yiming Liu
Journal:  J Hum Genet       Date:  2019-08-06       Impact factor: 3.172

7.  Recent advances in the genetics of frontotemporal dementia.

Authors:  Daniel W Sirkis; Ethan G Geier; Luke W Bonham; Celeste M Karch; Jennifer S Yokoyama
Journal:  Curr Genet Med Rep       Date:  2019-01-30

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

Authors:  Jian Sun; Chao Quan; Su-Shan Luo; Lei Zhou; Chong-Bo Zhao
Journal:  Chin Med J (Engl)       Date:  2017-12-20       Impact factor: 2.628

9.  A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.

Authors:  Jian-Yong Wang; Song-Fang Chen; Hong-Qiu Zhang; Meng-Yan Wang; Jian-Hong Zhu; Xiong Zhang
Journal:  Brain Behav       Date:  2019-05-20       Impact factor: 2.708

10.  AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.

Authors:  Yi Tang; Qi Qin; Yi Xing; Dongmei Guo; Li Di; Jianping Jia
Journal:  Mol Genet Genomic Med       Date:  2019-01-31       Impact factor: 2.183
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