<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
It might knock the old theory away completely because all of the new knowledge doesn't support the theory or it could change it because some of the new information supports the old stuff.
Answer:
B
Explanation:
The population size increases
1. Carbohydrates
(There are 3 sources of calories (or energy), which are also known as macronutrients: carbohydrates, protein, and fat.
Of these three, carbohydrates are the body’s preferred source of energy. Carbohydrates break down into glucose, which is an immediate source of energy.)
2.
A. Bone is not a type of human body tissue.
(The human body does has 4 types of tissue: Epithelial, muscle, connective and nervous tissue).
Answer:
ATP helps in transportation of larger molecules in and out of a cell which makes it essential to be used. it helps to give the required energy needed for such transportation. Glucose must be broken down in order to be transported and it is possible through a process called glycolysis
Explanation:
