<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:
Cellular respiration increases as you increase you exercise intensity. Cellular respiration includes the reactions in the cells of your body when they convert the food you eat into a molecule of energy in a form your cells can use. This energy is called adenosine triphosphate, or ATP.
Eukaryotic cells have a nucleus and contains organelles.
Toxicology is the study of toxin effects on human health. The individuals or professionals who carry out toxicology are called toxicologists. In toxicity testing, the dose of a chemical above which there is a measurable decline in the health of the organism being tested is referred to as the toxicity threshold. After identifying the effects and the toxins in the body of an organisms toxicologists device ways of removing or neutralizing the toxin so as to avoid any damaging effects to the body tissues.
The children's father must also carry the recessive allele. Recessive alleles only determine characteristics when a child inherits a copy from each parent.
