Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy-Reference-Cited by-同舟云学术

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy

Published:2017-05-13 Issue:16 Volume:26 Page:3081-3093
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Cho Anna¹²,Christine May,Malicdan V.¹³⁴,Miyakawa Miho¹,Nonaka Ikuya¹,Nishino Ichizo¹⁵,Noguchi Satoru¹⁵

Affiliation:

1. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan

2. Department of Pediatrics, Ewha Womans University School of Medicine, Yangcheon-gu, Seoul 158-710, Korea

3. Medical Genetics Branch, National Human Genome Research Institute,

4. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA

5. Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan

Funder

National Institutes of Health

Japan Society for the Promotion of Science (JSPS)

Intramural Research Grant for Neurological and Psychiatric Disorders of National Center of Neurology and Psychiatry

Research and Development Grants for Comprehensive Research for Persons with Disabilities from Japan Agency for Medical Research and Development, AMED

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/16/3081/25420669/ddx192.pdf

Reference59 articles.

1. Siglecs and immune regulation;Pillai;Annu. Rev. Immunol,2012

2. Congenital disorders of glycosylation;Jaeken;Handb. Clin. Neurol,2013

3. Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration;Schnaar;Physiol. Rev,2014

4. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation;Keppler;Science,1999

5. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme;Seppala;Am. J. Hum. Genet,1999

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Methylome–proteome integration after late‐life voluntary exercise training reveals regulation and target information for improved skeletal muscle health;The Journal of Physiology;2024-07-26

2. Coenzyme Q₁₀ supplementation affects cellular ionic balance: relevance to aging;Zeitschrift für Naturforschung C;2024-07-05

3. Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy;Experimental Cell Research;2024-07

4. Potential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy;Biochemical Pharmacology;2024-05

5. Computational insights into dynamics and conformational stability of N-acetylmannosamine kinase mutations;Journal of Biomolecular Structure and Dynamics;2024-03-19