Insights into the pharmaceuticals and mechanisms of neurological orphan diseases: Current Status and future expectations

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/62690094:18470/18:50014687

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Insights into the pharmaceuticals and mechanisms of neurological orphan diseases: Current Status and future expectations

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Insights into the pharmaceuticals and mechanisms of neurological orphan diseases: Current Status and future expectations

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30104 - Pharmacology and pharmacy

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

PROGRESS IN NEUROBIOLOGY

ISSN

0301-0082

e-ISSN

—

Svazek periodika

169

Číslo periodika v rámci svazku

October

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

23

Strana od-do

135-157

Kód UT WoS článku

000445313000006

EID výsledku v databázi Scopus

2-s2.0-85049603851