Deleterious variants in N-acetylneuraminate pyruvate lyase (NPL) cause skeletal myopathy and cardiac edema in humans and zebrafish, but its physiological role remains unknown. We report generation of mouse models of the disease: NplR63C, carrying the human p.Arg63Cys variant, and Npldel116 with...
NUTRITIONAL SUPPLEMENT FOR INCREASING CELLULAR LEVELS OF N-ACETYLNEURAMINATEThe instant invention relates to a composition useful as a nutritional supplement comprising acetylated neuraminate (NeuAc), and/or a compound selected from N-acetyl mannosamine (ManNac), at least one or more compounds of ...
A NUTRITIONAL SUPPLEMENT FOR INCREASING CELLULAR LEVELS OF N-ACETYLNEURAMINATEThe instant invention relates to a composition useful as a nutritional supplement comprising acetylated neuraminate (NeuAc), and/or a compound selected from N-acetyl mannosamine (ManNac), at least one or more compounds of...
NUTRITIONAL SUPPLEMENT FOR INCREASING CELLULAR LEVELS OF N-ACETYLNEURAMINATEThe instant invention relates to a composition useful as a nutritional supplement comprising acetylated neuraminate (NeuAc), and/or a compound selected from N-acetyl mannosamine (ManNac), at least one or more compounds of ...
NUTRITIONAL SUPPLEMENT FOR INCREASING CELLULAR LEVELS OF N-ACETYLNEURAMINATEThe instant invention relates to a composition useful as a nutritional supplement comprising acetylated neuraminate (NeuAc), and/or a compound selected from N-acetyl mannosamine (ManNac), at least one or more compounds of ...
A NUTRITIONAL SUPPLEMENT FOR INCREASING CELLULAR LEVELS OF N-ACETYLNEURAMINATE.The instant invention relates to a composition useful as a nutritional supplement comprising acetylated neuraminate (NeuAc), and/or a compound selected from N-acetyl mannosamine (ManNac), at least one or more compounds ...