<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
<span>Humans C</span>an't Re-Grow<span> Lost Limbs or O</span>rgans<span>, but Scientists are Successfully Cultivating Miniature O</span>rgans<span>, Specialized O</span>rgan<span> Cells and Replacement Body Parts.
Ex. So Basically People Can Grow ARTIFICIALLY Grow Organs, But Only When Your Still an INFANT Because Your Organs are Still Miniature and Still in The Human Body.
Hoped That Helped </span>
Air pressure (inside the lungs) is lowest when lung volume is highest, so the answer is B. when you breathe in your lungs expand, which makes the air molecules spread out, therefore the pressure is lower.
Biology is the study of life so a Biologist would study biology: the study of life and living things.
