<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:
D) Silent mutation on second codon, third amino acid changed from ILE to ASN.
Explanation:
Silent mutations are usually point mutation where you change one nucleotide. Since, the nucleotide changed is the third position, it does not affect the protein being manufactured (it will still put the amino acid Ala) [look up the codon redundancy on youtub.e to understand how awesome nature is!]
On the other hand, the other mutation introduced is Missense mutation where a different Amino acid is added due to change in codon (goes from ILE to ASN).
The nucleus is an organelle found in eukaryotic cells. Inside its fully enclosed nuclear membrane, it contains the majority of the cell's genetic material. This material is organized as DNA molecules, along with a variety of proteins, to form chromosomes.
Answer:
Leucocytes
Explanation:
Also known as white blood cells.
The question already indicated that the right answer is. I wonder why it's still posted.
Answer:
You're most likely to find sedimentary rocks near sources of water, which is where a lot of erosion takes place. You can find different types in riverbeds, ponds and coasts and throughout the oceans.
