<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:
You are driving your 1500 kg car at 20 m/s down a hill with a 5.0⁰ slope when a deer suddenly
jumps out onto the roadway. You slam on your brakes, skidding to a stop. How far do you skid before stopping if the kinetic friction force between your tires and the road is 1.2 X 104 N? Solve
this problem using conservation of energy.
Explanation:
Answer:
????
Explanation:
None of those seem to be correct to me.
1. Observations are made using the five senses- sight, sound, touch, taste, and smell. So this is invalid.
2. Observations and experiments can both be done anywhere
3. See answer to 2
4. It's cut off? But observations can literally be as simple as looking at a stick and noting that it's brown, so from what I can read, it's invalid.
The answer is bacterial cell
HEY MATE THIS IS UR ANSWER
ANSWER: "MUSCULOSKELETAL"
The musculoskeletal system provides form, support, stability, and movement to the body. It is made up of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue that supports and binds tissues and organs together
HOPE IT HELPS YOU