<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:
A living organism's position in the flow of energy through an ecosystem.
Answer:
A) 48
B) 96
C) 48
D) 48
Explanation:
Attached is a table summarizing the number of chromosomes and chromatids in the different stages of mitosis and meiosis in humans who are described as 2n = 46.
For the organism which is described as 2n = 48, substitute 46 in the table for 48 to get the appropriate figures.
Answer:
The plateau region has endemic population of species and the change in the ecology impacts the climate and wildlife of the area.
Explanation:
- The Edwards plateau is located in the south, central and western taxes. It bounded by faults and uplands. It has a base made of limestone.
- The plateau is home to various diverse species of plants and animals. The plateau region consists of 41 counties in geographic regions. Currently, about 2.26% of the land area is under protection as this region has experienced habitat loss of 5.3%.
Answer:
The bowl of ice cream contains ice cream with temperature below freezing point. A hot body contains more thermal energy than a cold body. Thermal energy only flows from a hot body to a cold body, and not the reverse.
The bowl of ice cream contain less thermal energy than it sorrounding envoirment (air and the kitchen counter), this creates a temperature gradient that forces thermal energy from the sorrounding envoirment into the bowl of ice cream because, according to thermodynamics, all bodies always tend to be in thermal equilibrium with its sorrounding. The thermal energy flows into the bowl of ice cream until it has the same thermal energy with its sorrounding; bringing the thermal gradient between them to zero.
