Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14110/14:00075106 RIV/65269705:_____/14:00061472 RIV/00064165:_____/14:10283215

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/NT12166" target="_blank" >NT12166: Studium podstaty dědičných poruch glykosylace</a><br>

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Brain

ISSN

0006-8950

e-ISSN

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Svazek periodika

137

Číslo periodika v rámci svazku

April

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

9

Strana od-do

1030-1038

Kód UT WoS článku

000333260900019

EID výsledku v databázi Scopus

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