Gene discovery may shed light on carpel tunnel syndrome and Lou Gehrig's disease
...ene's enzyme product. More research into why this disruption produces the specific symptoms of CMT type 2D and dSMA type V will be necessary. "Identifying this chromosome 7 disease gene at this particular time was especially gratifying in light of the recent completion of a finished sequence of this chromosome...UI researchers discover new cause of muscular dystrophies
...ophy causing genetic mutations have been linked to disruption of a large protein complex that controls the structural integrity of muscle cells. The researchers found that dysferlin was not associated with this large protein complex. Rather, dysferlin is normally found throughout muscle plasma membrane and also...Muscle-repair defect underlies two muscular dystrophies
...rane surrounding the muscle fibers showed areas of disruption associated with accumulations of vesicles. These findings strengthened our interest in the possibility that these mice had a defect in membrane repair, said Campbell. So, we isolated muscle fibers from wild-type mice and damaged them to see what woul...Weizmann institute scientists solve the 3-D structure of the enzyme involved in Gaucher disease
...elling and enlargement of the spleen and liver and disruption in the function of these organs, and in rare cases it also affects the brain. In the 1920s, the disease was found to be caused by the excessive accumulation of a fatty substance, or lipid, called glucosylceramide. In the 1960s, researchers discovered...Muscle protein has role in nerve disorders
... transmit nerve impulses. The results suggest that disruption of dystroglycan's functions may play a role in various neuropathic disorders. The UI team developed mice that lacked dystroglycan in their Schwann cells. This specific mutation caused progressive nerve damage in the mice. The mice were less coordinat...Purdue genetic discovery may aid plants and human medicine
...ight and gravity. Relocation of PIN1 and selective disruption of auxin transport makes plants bushier and affects fruit production. Transport of auxin to roots is actually enhanced in some mdr mutants, so the same gene modifications may alter root structures to make plants more adaptable to different soil types...UT Southwestern researchers pinpoint role cell surface protein group plays in brain function
...ern Medical Center at Dallas have discovered. The disruption of this specialized group of proteins, called alpha-Neurexins, causes severe interruption of synaptic transmission, which is essential for neurons to communicate in the central nervous system. Synapses are specialized junctions where neurons communic...First evidence that genetic imprinting occurs at earliest stage in test tube-matured eggs
...on. "What we've shown, for the first time, is that disruption loss, absence or delay of methylation imprint es...t is tempting to speculate that such early genetic disruption could be involved in subsequent abnormal development." Dr. Poirot concluded: "It is too early to say...JCI table of contents, July 15, 2003
...horing proteins ZO-1 and nephrin. Antibody-induced disruption of the Neph1-Nephrin interaction in vivo resulted in complement- and leukocyte-independent proteinuria. This study points to new possibilities for studying the pathogenesis of proteinuria. TITLE: Neph1 and nephrin interaction in the slit diaphragm is...R. John Collier, PH.D wins Bristol-Myers Squibb Infectious Disease Research Award
...using death of the cell or, in some cases, a toxic disruption of an important cellular function. As a result of these early discoveries, similar studies were undertaken with other toxins. In addition, for the first time in the field of toxinology, Dr. Collier's team elucidated the three-dimensional structures ...Common treatment for depression is safe and effective for Alzheimer's patients
...sion, also improves quality of life and alleviates disruption in daily activities for the one-quarter of Alzheimer's patients who also suffer from major depression. However, the drug did not improve patients' cognitive abilities, such as thinking, remembering and learning, which are often impaired in Alzheimer...Researchers solve structure of key drug target
...eins play such a vital role in the cell that their disruption is thought to be linked to numerous diseases, including depression, stroke and diabetes. In an article published in the August 1, 2003, issue of the journal Science , a research team led by Howard Hughes Medical Institute investigator H. Ronald Kab...Controlling body size by regulating the number of cells
...ion. Hafen's work gives us more insights into how disruption of FOXO function can lead to cancer. The researchers used a combination of genetic techniques, over expressing FOXO in parts of the fly and analysing flies that contained no functional FOXO protein, to investigate what FOXO does. They found that fli...Study reveals genetic activity of key step in malaria parasite's cycle
...e Achilles heal of the organism. In such a system, disruption of a key regulatory protein would lead to disruption of all the downstream processes as well. The orderly and precisely timed cascade of expression would...New principle guides memory dynamics
... has lately come to light that a memory is open to disruption for a short period following each time this memory is recalled. If this is true, it means that it would be possible to recall a memory and, immediately after the act of remembering, to activate a "memory eraser" and wipe it out, even though years may......uss potential mechanisms that could result in this disruption to b1 subunit expression and other target genes th...**************************************** Diabetic disruption of endothelial function Tetrahydrobiopterin (BH4) is a suspected mediator of reduced endothelial NO...Study shows critical role for steroids in insect embryonic development
...s." In addition, Kozlova and Thummel found that disruption of ecdysone signaling resulted in defects in major morphogenetic movements--germband retraction and head involution--that were known to be dependent on the amnioserosa. These processes convert the body plan from a nondescript embryo to a larva with ...Hormonal changes in satisfied and dissatisfied shift workers across a shift cycle
...se of the increased illnesses is due mainly to the disruption of sleep/wake behavior and the resulting conflict with the circadian system. To date, there is limited knowledge of the mechanisms behind disease susceptibility in shift workers. A new study contributes to the growing body of knowledge. Background ......Prader-Willi and Angelman can be attributed to the disruption of genes that sit near breakpoints regions in the chromosome that are prone to being re-arranged by the cell's genetic machinery before the chromosomes are passed to their offspring. Prader-Willi and Angelman syndromes occur in one in every 12,000 t...... the effect on betaAR function was specific to the disruption of a complex of the enzyme betaARK1 and PI3K, as mice lacking PI3K still demonstrate similar betaAR downregulation and desensitization. The study identifies a new role for PI3K in maintaining the levels of betaARs in the heart and that betaAR dysfunc...