ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F13%3A00072148" target="_blank" >RIV/00216224:14110/13:00072148 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/65269705:_____/13:#0002217

Výsledek na webu

<a href="http://dx.doi.org/10.1093/brain/aws312" target="_blank" >http://dx.doi.org/10.1093/brain/aws312</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1093/brain/aws312" target="_blank" >10.1093/brain/aws312</a>

Jazyk výsledku

angličtina

Název v původním jazyce

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Popis výsledku v původním jazyce

Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the functional glycosylation of alpha-dystroglycan, which can be detected in muscle biopsies. An important part of this glycosylation is a unique O-mannosylation, essential for the interaction of alpha-dystroglycan with extracellular matrix proteins such as laminin-alpha 2. Mutations in eight genes coding for proteins in the glycosylation pathway are responsible for similar to 50% of dystroglycanopathy cases. Despite multiple efforts using traditional positional cloning, the causative genes for unsolved dystroglycanopathy cases have escaped discovery for several years.

Název v anglickém jazyce

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Popis výsledku anglicky

Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the functional glycosylation of alpha-dystroglycan, which can be detected in muscle biopsies. An important part of this glycosylation is a unique O-mannosylation, essential for the interaction of alpha-dystroglycan with extracellular matrix proteins such as laminin-alpha 2. Mutations in eight genes coding for proteins in the glycosylation pathway are responsible for similar to 50% of dystroglycanopathy cases. Despite multiple efforts using traditional positional cloning, the causative genes for unsolved dystroglycanopathy cases have escaped discovery for several years.

Druh

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

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

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

136

Číslo periodika v rámci svazku

Part 1

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

13

Strana od-do

269-281

Kód UT WoS článku

000314909900021

EID výsledku v databázi Scopus

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