<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
The correct answers are ATMOSPHERE and BIOSPHERE. Nitrogen is most abundant in the ATMOSPHERE, but nitrogen can't be absorbed by the BIOSPHERE without the help of a special bacteria and without undergoing a process called nitrogen fixation.
The electrochemical impulse is composed of an action potential travelling from the dendrite to the cell body to the axon of the neuron. The main neurotransmitter is acetylcholine which is released at either the synapse or the neuromuscular junction.
<span>The characteristics that scientists used to classify living organisms into six kingdoms include the following:
1. Cell type: living organisms are classified into prokaryotes and eukaryotes based on the presence of nucleus and distinct arrangement of the organelles in their cells.
2. Mobility: living organisms are categorized into kingdoms based on their ability or inability to move about.
3. Cell structure: the cells structure was used to divide living organisms into plants and animals. Those living organisms that have cell wall are classified as plants while those who do not have cell wall are classified as animals.
4. Number of cells: living organisms that are made up of only one cell are classified as unicellular while those with many cells are termed multi cellular.
5. Reproduction method: living organisms are classified based on whether they reproduce sexually or asexually.
6. Manner of obtaining energy: living organisms that can prouduce their own food are called autotrophs while those that can not produce their own foood are termed heterotrophs. Plants are essentially categorised as autotrophs while animals are described as heterotrophs.</span>
Psoriasis is a skin disease that manifests itself in symptoms of varying severity. It is a chronic disease that can not be cured but can be alleviated by many treatments (like chemotherapy).
Photochemotherapy: also called P-UVA. It consists of the combination of UVA (a type of UV light) radiation after the local or oral administration of a psoralen that acts as a sensitizing photo. It is used alternately in patients for whom UVB (another type of UV) has no effect, as P-UVA is more effective and longer-lasting, but is associated with basiloma (basal cell carcinoma) and melanoma.