<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
Answer:
False
Explanation:
Ocean currents are driven by wind, water density differences, and tides. Oceanic currents describe the movement of water from one location to another. Currents are generally measured in meters per second or in knots (1 knot = 1.85 kilometers per hour or 1.15 miles per hour).
Answer:
No, cardiac muscle tissue does not exhibit recruitment.
Explanation:
The cardiac muscle tissue does not recruit cells to contract. The reason is that the cardiac muscle contracts all its cells at once and with the same force. It does not have to recruit other cells since it does not have to lift objects of different weights. The heart's contraction aims to pump blood and to do it rhythmically. The heart has a natural peacemaker, the sinoatrial node. The Sinoatrial node transmits an electrical impulse to all the heart to contract it all at the same time and continuously. For these reasons, the cardiac muscle does not need recruitment.
Answer:
what is the question? what do you need to solve for?
The answer is orange because the way that he said the problem out.
