Discovery may help design effective therapies for the genetic disease that mainly affects Ashkenazi Jews
An interdisciplinary team of Weizmann Institute scientists has solved the three-dimensional structure of an enzyme called glucocerebrosidase. Mutations occurring in this enzyme cause Gaucher disease, a genetic illness that mainly affects Ashkenazi Jews. The Institute study, published recently in EMBO Reports, may lead to the design of effective new therapies for treating the disease.
Gaucher disease was first described in 1882 by the French physician Philippe Gaucher. It is characterized by swelling 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 that the accumulation occurs due to a defect in the glucocerebrosidase enzyme, whose function is to break down this lipid and regulate its amount. In the 1980s, the gene responsible for manufacturing the enzyme was isolated; scientists found that mutations in this gene disrupt the function of the enzyme, leading to the development of Gaucher disease.
Alex Smith | EurekAlert!
New dental implant with built-in reservoir reduces risk of infections
18.01.2017 | KU Leuven
Many muons: Imaging the underground with help from the cosmos
19.12.2016 | DOE/Pacific Northwest National Laboratory
A Swedish-German team of researchers has cleared up a key process for the artificial production of silk. With the help of the intense X-rays from DESY's...
For the first time ever, a cloud of ultra-cold atoms has been successfully created in space on board of a sounding rocket. The MAIUS mission demonstrates that quantum optical sensors can be operated even in harsh environments like space – a prerequi-site for finding answers to the most challenging questions of fundamental physics and an important innovation driver for everyday applications.
According to Albert Einstein's Equivalence Principle, all bodies are accelerated at the same rate by the Earth's gravity, regardless of their properties. This...
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
24.01.2017 | Physics and Astronomy
24.01.2017 | Life Sciences
24.01.2017 | Health and Medicine