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Rice fish model of a rare metabolic disorder


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IMAGE: In Alg mutant embryos, rod cells are initially born but not maintained and undergo programmed cell death indicated in magenta (TUNEL staining).
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Credit: Clara Becker.
Human cells are kept healthy by the activity of millions of proteins. These proteins are modified in different ways, such as by adding sugar molecules to them, which can be crucial for them to function properly. Given this importance, defects in the sugar-adding process are often lethal at the very early stages of development. In rare cases, however, patients can develop sugar-adding deficiencies that result in a range of metabolic diseases, known collectively as congenital disorders of glycosylation (CDG). These disorders are caused by defects in the enzymes involved in the sugar-adding process. For example, ALG2-CDG (or CDG-Ii) is a disorder caused by mutations in the ALG2 enzyme, which combines sugar molecules together. ALG2-CDG patients appear unaffected at bir ....

Joachim Wittbrodt , Thomas Thumberger , Centre For Organismal , Professor Joachim Wittbrodt , Organismal Studies , Developmental Reproductive Biology , Metabolism Metabolic Diseases , ஜேயொவாகிம் விட்திப்ரொடட் , மையம் க்கு ஒர்கனிஸ்மால் , ஒர்கனிஸ்மால் ஆய்வுகள் ,