<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:
The head got bigger and the face got smaller. Hope his helps.
The spinal cord and the brain make up the central nervous system, and spinal cord nerves carry most messages between the brain and the rest of the body.
The vagus nerve carries the signal from the brain to the heart.
I would say energy myself, and this is because energy plays a key role in all of these. With trophic levels energy is being transferred amongst the levels. Food chain's is a map of how the energy is passed along the chain. Food web is a web of how energy is transferred, and this is why I would say energy is a keyword.
Answer:
Meiosis 1 better mirrors the process of mitosis.
Explanation:
During the process of mitosis, the somatic cells of the body replicate to form two daughter cells which are identical to the parent cell. In meiosis I, two daughter cells are formed. During mitosis, diploid cells are formed. During meiosis 1 also, two diploid cells are formed. hence, these two processes are more similar as compared to mitosis II. in mitosis II, four haploid cells are made as a result of the division process.
