A lysosomal storage disorder, mucolipidosis type II causes edema of the internal organs and skeletal dysplasia. Children diagnosed with the genetic disease often die before they reach age seven. Now, researchers have identified a new gene implicated in the disease, TMEM251, which is necessary for lysosomes to function correctly. Lysosomes are organelles within all cells...
Tag: <span>Defective gene</span>
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Defective gene slows down brain cells
by Institute of Science and Technology Austria When analyzing the brain of the mice whose Cullin 3-Gen has been partially deactivated, the scientists found malformations of the cortex. Credit: © IST Austria Within the European Union alone, about 3 million people are affected by an autism spectrum disorder (ASD). Some are only mildly affected and can...