Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele-Reference-Cited by-同舟云学术

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele

Published:2016-11-10 Issue:2 Volume:62 Page:159-166
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Zhu Wenhua,Mitsuhashi Satomi,Yonekawa Takahiro,Noguchi Satoru,Huei Josiah Chai Yui,Nalini Atchayaram,Preethish-Kumar Veeramani,Yamamoto Masayoshi,Murakata Kenji,Mori-Yoshimura Madoka,Kamada Sachiko,Yahikozawa Hiroyuki,Karasawa Masato,Kimura Seigo,Yamashita Fumitada,Nishino Ichizo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg2016134.pdf

Reference29 articles.

1. Nishino, I., Carrillo-Carrasco, N. & Argov, Z. GNE myopathy: current update and future therapy. J. Neurol. Neurosurg. Psychiatry 86, 385–392 (2015).

2. Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T. et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29, 83–87 (2001).

3. Watts, G. D., Thorne, M., Kovach, M. J., Pestronk, A. & Kimonis, V. E. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul. Disord. 13, 559–567 (2003).

4. Reinke, S. O. & Hinderlich, S. Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Febs. Lett 581, 3327–3331 (2007).

5. Yardeni, T., Choekyi, T., Jacobs, K., Ciccone, C., Patzel, K., Anikster, Y. et al. Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. Biochemistry 50, 8914–8925 (2011).

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