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 E-Mail IMAGE: In Alg mutant embryos, rod cells are initially born but not maintained and undergo programmed cell death indicated in magenta (TUNEL staining). view more  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 birth, but later d

Joachim wittbrodtThomas thumbergerCentre for organismalProfessor joachim wittbrodtOrganismal studiesDevelopmental reproductive biologyMetabolism metabolic diseasesஜேயொவாகிம் விட்திப்ரொடட்மையம் க்கு ஒர்கனிஸ்மால்ஒர்கனிஸ்மால் ஆய்வுகள்