Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy-Reference-Cited by-同舟云学术

Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy

Published:2019-02-03 Issue:3 Volume:142 Page:560-573
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Itoh Masayuki¹,Dai Hongmei¹,Horike Shin-ichi²,Gonzalez John³,Kitami Yoshikazu¹,Meguro-Horike Makiko²,Kuki Ichiro⁴,Shimakawa Shuichi⁵,Yoshinaga Harumi⁶,Ota Yoko⁷,Okazaki Tetsuya⁸,Maegaki Yoshihiro⁸,Nabatame Shin⁹,Okazaki Shin⁴,Kawawaki Hisashi⁴,Ueno Naoto¹⁰¹¹,Goto Yu-ichi¹,Kato Yoichi³¹²

Affiliation:

1. Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Kodaira, Japan

2. Advanced Science Research Center, Kanazawa University, Kanazawa, Japan

3. Department of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL, USA

4. Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan

5. Department of Pediatrics, Osaka Medical University, Osaka, Japan

6. Department of Child Neurology, Okayama University, Okayama, Japan

7. Department of Pathology and Experimental Medicine, Okayama University, Okayama, Japan

8. Department of Child Neurology, University of Tottori, Yonago, Japan

9. Department of Pediatrics, Osaka University, Osaka, Japan

10. Department of Developmental Biology, National Institute for Basic Biology, Natural Institutes of Natural Sciences, Okazaki, Japan

11. Department of Basic Biology, School of Life Science, the Graduate University of Advanced Studies (SOKENDAI), Hayama, Japan

12. Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan

Funder

Intramural Research

Neurological and Psychiatric Disorders

National Center of Neurology and Psychiatry and Grants-in-Aid

Challenging Exploratory Research

Japan Society for the Promotion of Science

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/142/3/560/27986489/awz001.pdf

Reference49 articles.

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2. DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells;Aradjanski;Hum Mol Genet,2017

4. Childhood leukodystrophies: a literature review of updates on new definitions, classification, diagnostic approach and management;Ashrafi;Brain Dev,2017

5. Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF;Bharti;Development,2008

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