Congenital disorders of glycosylation: Still "hot" in 2020
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10420333" target="_blank" >RIV/00216208:11110/21:10420333 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00064165:_____/21:10420333
Výsledek na webu
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Tb0G7KTOWu" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Tb0G7KTOWu</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bbagen.2020.129751" target="_blank" >10.1016/j.bbagen.2020.129751</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Congenital disorders of glycosylation: Still "hot" in 2020
Popis výsledku v původním jazyce
Background: Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by defects in the genes important for the process of protein and lipid glycosylation. With the ever growing number of the known subtypes and discoveries regarding the disease mechanisms and therapy development, it remains a very active field of study. Scope of review: This review brings an update on the CDG-related research since 2017, describing the novel gene defects, pathobiomechanisms, biomarkers and the patients' phenotypes. We also summarize the clinical guidelines for the most prevalent disorders and the current therapeutical options for the treatable CDG. Major conclusions: In the majority of the 23 new CDG, neurological involvement is associated with other organ disease. Increasingly, different aspects of cellular metabolism (e.g., autophagy) are found to be perturbed in multiple CDG. General significance: This work highlights the recent trends in the CDG field and comprehensively overviews the up-to-date clinical recommendations.
Název v anglickém jazyce
Congenital disorders of glycosylation: Still "hot" in 2020
Popis výsledku anglicky
Background: Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by defects in the genes important for the process of protein and lipid glycosylation. With the ever growing number of the known subtypes and discoveries regarding the disease mechanisms and therapy development, it remains a very active field of study. Scope of review: This review brings an update on the CDG-related research since 2017, describing the novel gene defects, pathobiomechanisms, biomarkers and the patients' phenotypes. We also summarize the clinical guidelines for the most prevalent disorders and the current therapeutical options for the treatable CDG. Major conclusions: In the majority of the 23 new CDG, neurological involvement is associated with other organ disease. Increasingly, different aspects of cellular metabolism (e.g., autophagy) are found to be perturbed in multiple CDG. General significance: This work highlights the recent trends in the CDG field and comprehensively overviews the up-to-date clinical recommendations.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
10600 - Biological sciences
Návaznosti výsledku
Projekt
<a href="/cs/project/8F19002" target="_blank" >8F19002: Towards a new era for the identification and characterisation of inborn errors of glycosylation</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2021
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Biochimica et Biophysica Acta - General Subjects
ISSN
0304-4165
e-ISSN
—
Svazek periodika
1865
Číslo periodika v rámci svazku
1
Stát vydavatele periodika
NL - Nizozemsko
Počet stran výsledku
18
Strana od-do
129751
Kód UT WoS článku
000594131800015
EID výsledku v databázi Scopus
2-s2.0-85092018014