<span>Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini, one localized in the cytoplasm (endoplasmic reticulum) and the other in the nucleus. To date, all documented disease mutations, including the knockout mouse model deletion, have been in the segment of the protein common to both isoforms. It is therefore not known whether dysfunction of the cytoplasmic, nuclear, or both isoforms leads to the disease. In the present work, we identify six novel mutations, one of which, c.950insT (Q319fs), is the first mutation specific to the cytoplasmic laforin isoform, implicating this isoform in disease pathogenesis. To confirm this mutation's deleterious effect on laforin, we studied the resultant protein's subcellular localization and function and show a drastic reduction in its phosphatase activity, despite maintenance of its location at the endoplasmic reticulum.
I got my information from </span>https://www.ncbi.nlm.nih.gov/pubmed/14722920
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Why not use adult stem cells instead of using human embryonic stem cells in research? Human embryonic stem cells are thought to have much greater developmental potential than adult stem cells. ... However, a newer type of reprogrammed adult cells, called induced pluripotent stem cells, has proven to be pluripotent.
Explanation:
Protists obtain food in 3 ways. They produce their own organic molecules, ingest, and absorb. Ingestive protists ingest food, or engulf bacteria. These protists extend their cell wall and cell membrane forming a food vacuole around the food item. Inside the food vacuole, enzymes digest the food. Absorptive protists on the other hand, absorb food molecules across their cell membrane which takes place through diffusion. Absorptive protists play a key role in decomposition. They are considered as important decomposers. Major producers like photosynthetic protists use light energy to manufacture their own food.<span>
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Each component is in balance with the other components. As long as the components are in balance, the ecosystem can remain stable and healthy. Ecosystems may remain stable for many years if the different components are balanced.
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Extra carbon dioxide in the atmosphere increases the greenhouse effect. More thermal energy is trapped by the atmosphere, causing the planet to become warmer than it would be naturally Explanation: yeah
