Insights into the pharmaceuticals and mechanisms of neurological orphan diseases: Current Status and future expectations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F62690094%3A18450%2F18%3A50014687" target="_blank" >RIV/62690094:18450/18:50014687 - isvavai.cz</a>
Alternative codes found
RIV/62690094:18470/18:50014687
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S0301008217302022" target="_blank" >https://www.sciencedirect.com/science/article/pii/S0301008217302022</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.pneurobio.2018.06.011" target="_blank" >10.1016/j.pneurobio.2018.06.011</a>
Alternative languages
Result language
angličtina
Original language name
Insights into the pharmaceuticals and mechanisms of neurological orphan diseases: Current Status and future expectations
Original language description
Several rare or orphan diseases have been characterized that singly affect low numbers of people, but cumulatively reach similar to 6%-10% of the population in Europe and in the United States. Human genetics has shown to be broadly effective when evaluating subjacent genetic defects such as orphan genetic diseases, but on the other hand, a modest progress has been achieved toward comprehending the molecular pathologies and designing new therapies. Chemical genetics, placed at the interface of chemistry and genetics, could be employed to understand the molecular mechanisms of subjacent illnesses and for the discovery of new remediation processes. This review debates current progress in chemical genetics, and how a variety of compounds and reaction mechanisms can be used to study and ultimately treat rare genetic diseases. We focus here on a study involving Amyotrophic lateral sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Spinal muscular atrophy (SMA) and Familial Amyloid Polyneuropathy (FAP), approaching different treatment methods and the reaction mechanisms of several compounds, trying to elucidate new routes capable of assisting in the treatment profile.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30104 - Pharmacology and pharmacy
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
PROGRESS IN NEUROBIOLOGY
ISSN
0301-0082
e-ISSN
—
Volume of the periodical
169
Issue of the periodical within the volume
October
Country of publishing house
GB - UNITED KINGDOM
Number of pages
23
Pages from-to
135-157
UT code for WoS article
000445313000006
EID of the result in the Scopus database
2-s2.0-85049603851