Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

Mori‐Yoshimura, Madoka; Monma, Kazunari; Suzuki, Naoki; Akiyama, Masashi; Kumamoto, Toshihide; Tanaka, Keiko; Tomimitsu, Hiroyuki; Nakano, Satoshi; Sonoo, Masahiro; Shimizu, Jun; Sugie, Kazuma; Nakamura, Harumasa; Oya, Yasushi; Hayashi, Yukiko; Malicdan, May Christine V.; Noguchi, S.; Murata, Miho; Nishino, Ichizo

doi:10.1016/j.jns.2012.03.016

Cited by 44 publications

(46 citation statements)

References 21 publications

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“…Both these amino acids are well-preserved among species and a missense mutation p.Gly568Ser was also recently identified in a Japanese GNE myopathy patient. [21] The c. 2086G > A (p.Val696Met) mutation was common in this series and identified in the six of eight families (75%), heterozygously. This mutation was reported previously among patients from Thailand.…”

Section: Discussionmentioning

confidence: 75%

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GNE myopathy in India

et al. 2013

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Section: Discussionmentioning

confidence: 75%

“…This mutation was reported previously among patients from Thailand. [7,21] In GNE myopathy, presence of the common mutation is known to occur in different ethnic backgrounds, i.e. p. Val572 Leu mutation in Japanese and Korean patients and p.Met712Thr in the Jewish population.…”

Section: Discussionmentioning

confidence: 99%

GNE myopathy in India

et al. 2013

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“…A number of approaches have been investigated in an attempt to develop effective therapies for GNE myopathy (Malicdan et al, 2009, Jay et al, 2009, Malicdan et al, 2010, Nemunaitis et al, 2011, Malicdan et al, 2012, Niethamer et al, 2012, Yonekawa et al, 2014.…”

Section: Gne Myopathymentioning

confidence: 99%

The nutritional role of free sialic acid, a human milk monosaccharide, and its application as a functional food ingredient

Röhrig¹,

Choi

Baldwin

2016

Critical Reviews in Food Science and Nutrition

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N-Acetyl-d-neuraminic acid (NANA), more commonly known by its trivial name sialic acid, is an endogenous human and ubiquitous nutritional monosaccharide. As a bound sugar at the terminal positions of glycans NANA is known to play important roles in many biological events. The data that exist on the occurrence of the free monosaccharide in breast milk and nutrition, however, are less commonly discussed. In most foods of animal origin, sialic acid occurs as a mixture of NANA and N-glycolyl-d-neuraminic acid (NGNA), a hydroxylated derivative of NANA that is not found in humans. The dietary intake of NGNA has been identified as a risk factor for long-term adverse health effects. Therefore, we present summaries on the biochemistry, metabolism, bioavailability, and the data on NANA and NGNA levels that occur in diverse foods. Finally, we discuss the emerging data demonstrating that free NANA is linked to positive nutritional effects including pronounced antioxidative properties. These data and the extremely high safety profile of NANA justify dietary enrichment at levels that correspond to the dietary intake of NANA in infants through breast milk.

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“…42 The most prevalent variant in the Japanese 41 and Korean 33 patients is p.V603L, followed by p.D207V in Japanese and p.C44S in Koreans. Importantly, 13% 40 of all reported cases (and 50% of Japanese cases) 41 with GNE myopathy carry at least one copy of p. V603L. Patients homozygous for this variant have a severe phenotype with earlier onset and faster progression of the disease.…”

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

“…30,31 The c.2228T4C (p.M743T) founder variant has been estimated to have arisen about 2500 years ago. 23 This variant has been found in the homozygous state in Iranian Jewish 7,22 and non-Jewish, 22 Tunisian, 32 Middle Eastern Muslim, 38 Egyptian Muslim, 39 and Japanese 40,41 patients and in heterozygous state in a few patients from Italy, 36 Tunisia, 32 and Japan. 42 The most prevalent variant in the Japanese 41 and Korean 33 patients is p.V603L, followed by p.D207V in Japanese and p.C44S in Koreans.…”

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%