<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:
Adaptive immune defense system consists of lymphocytes like B-lymphocytes and T- lymphocytes. B-lymphocytes provides humoral immunity while T- lymphocytes provide cell-mediated immunity to the body.
99% of lymphocytes circulate freely in the blood and lymph. B lymphocytes differentiate into plasma B cells and B memory cells when interact with antigen presented by T helper cells.
Then plasma cells secrete antibodies in the circulation which binds to extracellular antigens through antigen-binding site. Then the bounded antigen is recognized by receptors present on phagocytic cells. This receptor binds the Fc region of antigen bounded antibody and destroy the antigen by phagocytosis.
Answer:
A. looking for ways to improve the quality of water
C ITS C I TOOK IT I took the test
The fossil record shows a sequence from simple bacteria to more complicated organisms through time, it is very reliable because it is physical evidence and by studying fossils, scientists can learn how much (or how little) organisms have changed as life developed on Earth.
