<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
Which picture?, pls Clip the picture for the answer.
<span>Gametogenesis is the process of forming gametes (by definition haploid, n) from diploid cells of the germ line. Spermatogenesis is the process of forming sperm cells by meiosis (in animals, by mitosis in plants) in specialized organs known as gonads (in males these are termed testes).</span>
For centuries scientists thought the Universe always existed in a largely unchanged form, run like clockwork thanks to the laws of physics. But a Belgian priest and scientist called George Lemaitre put forward another idea. In 1927, he proposed that the Universe began as a large, pregnant and primeval atom, exploding and sending out the smaller atoms that we see today.
His idea went largely unnoticed. But in 1929 astronomer Edwin Hubble discovered that the Universe isn’t static but is in fact expanding. If so, some scientists reasoned that if you rewound the Universe's life then at some point it should have existed as a tiny, dense point. Critics dismissed this: the celebrated astronomer Fred Hoyle sarcastically called this concept the “Big Bang Theory"
Cytokinesis occurs after mitosis is complete. It is when two daughter cells are formed, each with their own nuclei, after a single cell has <em>completely </em>divided.
