<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:Mechanical digestion physically breaks down food, like when teeth macerate food into a bolus. The stomach contracts and relaxes in a churning motion. ... Chemical digestion occurs when the bonds within larger food molecules are broken, creating smaller molecules that the body can use.May 30, 2017
Explanation:
In communities where zebra mussels have invaded we observed that the population of invertebrates, zooplankton, and phytoplankton they will decrease when in open water. The population of bottom-dwelling invertebrates which are in the littoral zone will increase.
Hypothesis shows the zebra mussels will affect the fish negatively that feed on plankton in the open water but affect positively the fish which feed on invertebrates which are in the littoral zones.
The predictions by following the invasion of zebra muscles show that the number and growth rate of fish species in open water will decrease in population whereas the number and growth rate of fish species in the littoral zone will increase in population.
Answer:
A
Explanation:
The correct formula for cellular respiration is:
Glucose (sugar) + Oxygen → Carbon dioxide + Water + Energy (as ATP).
1. Carbon Dioxide 2. respiration 3. animals 4. plants 5. Oxygen 6. combustion
