Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10283215" target="_blank" >RIV/00216208:11110/14:10283215 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/14:00075106 RIV/65269705:_____/14:00061472 RIV/00064165:_____/14:10283215
Result on the web
<a href="http://dx.doi.org/10.1093/brain/awu019" target="_blank" >http://dx.doi.org/10.1093/brain/awu019</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/brain/awu019" target="_blank" >10.1093/brain/awu019</a>
Alternative languages
Result language
angličtina
Original language name
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Original language description
Congenital disorders of glycosylation are associated with intellectual disability. Using a novel glycoprofiling method, Van Scherpenzeel et al. screened 100 patients with deficient glycosylation, and identified 12 patients with identical glycan abnormalities and mutations in MAN1B1. The results provide functional confirmation of MAN1B1 variants in intellectual disability.Congenital disorders of glycosylation comprise a group of genetic defects with a high frequency of intellectual disability, caused bydeficient glycosylation of proteins and lipids. The molecular basis of the majority of the congenital disorders of glycosylation type I subtypes, localized in the cytosol and endoplasmic reticulum, has been solved. However, elucidation of causative genesfor defective Golgi glycosylation (congenital disorders of glycosylation type II) remains challenging because of a lack of sufficiently specific diagnostic serum methods. In a single patient with intellectual disability, whole-exome sequ
Czech name
—
Czech description
—
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
—
Result continuities
Project
<a href="/en/project/NT12166" target="_blank" >NT12166: The study of the bases of congenital disorders of glycosylation</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Brain
ISSN
0006-8950
e-ISSN
—
Volume of the periodical
137
Issue of the periodical within the volume
April
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
1030-1038
UT code for WoS article
000333260900019
EID of the result in the Scopus database
—