Angelman Syndrome is a rare genetic disorder characterized by neurological and developmental issues. Dr. Harry Angelman discovered the syndrome in 1965. It was formerly called “Happy Puppet Syndrome” due to the clinical features possessed by those affected. Dr. Angelman observed those affected as appearing normal upon birth but eventually showing signs of development disabilities. Angelman Syndrome mainly targets the nervous system and can be detected in infants as early as six months. Typically
protein degradation process, will be discussed along with the Ubiquitin Ligase, a major player in the mechanism. Ubiquitination is a post-translational modification where ubiquitin, an 8kDa protein that is highly conserved in eukaryotes, is attached to a substrate protein (Lu et al., 2008). Ubiquitin is attached to a targeted protein through a sequential cascade which involves E1 activating, E2 conjugating, and E3 ligase enzymes. This ubiquitin tagging is necessary for many cellular processes, including
processes are regulated by the ubiquitin proteasome system (UPS), and have also been shown to influence UPS activity and function (Wilck). My current research involves cell migration studies of primary mouse vascular aortic smooth muscle cells under various drug treatments. Treatments include a statin (Fluvastatin), oxidized low density lipoprotein (oxLDL), and a proteasome inhibitor (Bortezomib). The aim of this proposed research is to further investigate the role of the ubiquitin proteasome system in primary
2010). Recent genetic and biochemical study revealed that mutations in a unique PXX repeat region of UBQLN2 which is one of ubiquitin like protein family are causative in ALS. The different mutations of UBQLN2 are present in the typical skein-like inclusion which is a hallmark of ALS pathology. In detailed functional relevance of ubiquitin like domain (UBL) and ubiquitin association domain (UBA) of UBQLN2 still need further elucidation, degradation of UPS reporter slowed in neuroblastoma cells
MUTANT HUNTINGTIN PROTEIN AGGREGATION AND PROTEASOMAL DISFUNCTION AN INSILICO STUDY 1. INTRODUCTION 1.1 Huntingtons Disease Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the
long term memory this is the memory that we store for long periods of time and these memories usually are either stored here due to repetition or due to some sort of emotional attachment that allows a memory to more vigorously imprint in our minds. Ubiquitin-proteasome System and a renewed look at the importance of PKA and CaMKII in long term memory development. For many years it was thought that PKA or Protein Kinase A and Calcium-calmodulin-dpendant-... ... middle of paper ... ...ase A, Regulates
regarded as the most prominent tumor suppressor gene [1]. P53 is a gene which signals apoptosis (programmed cell death) if a cell cannot be repaired due to an extensive amount of damage. As stated in the textbook, p53 regulation occurs by an E3 ubiquitin-protein ligase known as MDM2 [1]. "Controlling the controller" is a statement that describes the molecular interaction where the presence of MDM2 targets the p53 for proteosome via degradation. With three main checkpoints in cell cycle, the literature
1. Histone modifications can effect transcription by altering the chromatin structure or the interaction with other regulatory proteins. Addition of positive or negative charges through the modifications disrupts the electrostatic interaction between the histones and DNA, which modulates the chromatin structure and therefore, the accessibility of DNA to the regulatory proteins. DNA methylation is an epigenetic modification which can influence the interaction between transcription factors and CpG
Plants like many eukaryotic composed organisms have the ability to detect and protect themselves against microorganisms known as pathogens. Plant fossils have recorded that land plant’s existence was established 480 million years ago, but molecularly, plant evolution began 700 million years ago. Molecular interaction with microbes and other organisms gave the shape and structure of plants, giving us an idea that microbes also evolve according to its host. Plants lack mobility depriving themselves
Angelman Syndrome (AS) is a neurodevelopmental disorder, which is caused by mutations or deletions of the UBE3A gene inherited from the maternal allele. This gene encodes the protein E3 ubiquitin ligase. UBE3A is expressed biallelically in majority of tissues but in most neurons the maternal allele is solely expressed. In 1965 Dr. Harry Angelman an English pediatrician first described Angelman syndrome. At the time of discovery Dr. Angelman named the disorder “happy puppet syndrome” this was due
CREB-1 (Ca2+/cAMP response element binding protein-1) Ca2+/cAMP response element binding (CREB-1) protein is a transcription factor that regulates cell growth, homeostasis and survival. A TM phosphorylates CREB at Ser111 in response to IR. This, in turn, triggers CK-2 dependent phosphorylation of Ser108 and CK1 dependent phosphorylatio~ ofSer114 and Ser117. The phosphorylation of Ser 114 and Ser 117 by CK1 renders CREB permissive for ATM dependent phosphorylation at Ser121 (Shanware et al., 2007)
Apoptosis: A process where when a cell receives a specific signal, is damaged, or is stressed a cell becomes programmed to die which causes the cell to decrease in size and is attacked by macrophages causing it to break into smaller pieces. Autonomous Specification: A process by which a cell can become specialized during embryonic development without receiving signals from external sources. Caspases: A family of enzymes that are proteases that are important for apoptosis and inflammation in cells
Centrosomes are cytoplasmic organelles which contain two centrioles (mother and daughter centriole) positioned perpendicular to each other. Each centriole is a cylindrical structure, ~100-150 nm in diameter and 100- 400 nm in length, made up of nine microtubule triplets (singles or doublets in some cells) (Delattre and Gönczy, 2004). The centrosome is surrounded by pericentriolar material (PCM) which helps in nucleating microtubules. The PCM contains pericentrin, centrin, γ-tubulin ring complexes
Y chromosome, the smallest chromosome of the karyotpe, is one of the two sex chromosomes. In 1905, Nettie Stevens identified that Y chromosome is a sex-determining chromosome, while conducting one study of the mealworm Tenebrio molitor. He also proposed that chromosomes always existed in pairs. In 1890 Hermann Henking discovered that Y chromosome was the pair of the X chromosome. All chromosomes normally appear to take on a well defined shape during mitosis when seen under microscope. This shape
TIR1 is a key protein in Arabidopsis involved in the degradation of Aux/IAA to promote the expression of auxin induced genes. It has an important role in the regulation of auxin response genes and thus its function is conserved throughout plants. In our experiments we looked at the function of TIR1 by characterising an EMS tir1-1 mutant and also identified the members in the TIR1 gene family in arabidopsis and determined if the TIR1 function was conserved in other plant groups. Aux/IAA genes are
Simian virus 40 (SV40) is a monkey virus that was introduced into the human population by contaminated poliovaccines. The vaccines were produced in SV40 infected monkey cells between 1955 and 1963. The site of latent infection in humans is not known but the presence of SV40 in urine suggests the kidney as a possible site of latency. SV40 is a small DNA virus that is studied extensively because it is able to transform and immortalize multiple cell types (Ozer 2000, Saenz-Robles et al. 2001). Polyoma
embryos where after the egg is fertilized by the sperm, the sperm mitochondria enter the egg cell. Here in the egg is where the sperm mitochondria are outnumbered by the maternal mitochondria and are killed through a mechanism that identify the ubiquitin sperm are tagged with. Thus paternal mitochondria do not transmit to further cell stages of embryo development and mtDNA is solely believed to be maternal in inheritance. Taking the case study into account, the question that is raised is how paternal
As a result of many deaths of professional athletes through suicide as well as general concern for health, concussion awareness and testing is as high as it’s ever been. Precautions and tests are currently being set up in almost sports in the attempt to diminish the long term effects. Although the symptoms and exact recovery time are still unknown, doctors and researchers are sure that concussions and other forms of head impacts can have long term effects that can present serious issues throughout
Ebola is a member of the virus family Filoviridae, causes hemorrhagic fever, which is serious illness in humans and animals. Ebola virus disease is extremely contagious, with mortality rate is 92%. It is transmitted to human from wild animals (chimpanzees, gorillas, monkeys) or from human through liquid body substance like blood, slaver, urine, etc. of a person who is infected with Ebola, except water and air. Ebola virus is found in various countries in Africa. It was first discovered in 1976, during
Fanconi Anemia (FA) is a hereditary recessive disorder that is characterized by defective DNA cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and cytogenetic instability. FA is caused by mutations in a complex set of proteins, including a FA core complex which contains eight out of sixteen known FA genes and their associated proteins. The FA proteins work together in a genome maintenance pathway called the FA/BRCA pathway, which plays an important