GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A00004123" target="_blank" >RIV/00216208:11110/09:00004123 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1002/humu.21031" target="_blank" >http://dx.doi.org/10.1002/humu.21031</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/humu.21031" target="_blank" >10.1002/humu.21031</a>

Jazyk výsledku

angličtina

Název v původním jazyce

GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase

Popis výsledku v původním jazyce

Alterations in GLB1, the gene coding for acid 0 D-galactosidase (beta-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS)function. While most MBD patients carry a common allele, c.817TG>CT (p.W273L), only few of the > 100 mutations known in GM1 can be related to a certain phenotype. In 25 multiethnic patients with GM1 or MBD, 11 missense mutations were found as well as one novel insertion and a transversion causing aberrant gene products. Except c.602G>A (p.R201H) and two novel alleles, c.592G>T (p.D198Y) and c.1189C>G (p.P397A), all mutants resulted in significantly reduced beta-Gal activities (<10% of normal) upon expression in COS-I cells. Although c.997T>C (p.Y333H) expressed 3% of normal activity, the mutant protein was localized in the lysosomal,endosomal compartment. A homozygous case presented with late infantile GM1, while a heterozygous, juveni

Název v anglickém jazyce

GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase

Popis výsledku anglicky

Alterations in GLB1, the gene coding for acid 0 D-galactosidase (beta-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS)function. While most MBD patients carry a common allele, c.817TG>CT (p.W273L), only few of the > 100 mutations known in GM1 can be related to a certain phenotype. In 25 multiethnic patients with GM1 or MBD, 11 missense mutations were found as well as one novel insertion and a transversion causing aberrant gene products. Except c.602G>A (p.R201H) and two novel alleles, c.592G>T (p.D198Y) and c.1189C>G (p.P397A), all mutants resulted in significantly reduced beta-Gal activities (<10% of normal) upon expression in COS-I cells. Although c.997T>C (p.Y333H) expressed 3% of normal activity, the mutant protein was localized in the lysosomal,endosomal compartment. A homozygous case presented with late infantile GM1, while a heterozygous, juveni

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/MEB060904" target="_blank" >MEB060904: Vztah fenotypu a genotypu u lysosomálních dědičných poruch s deficitem aktivity beta galaktosidasy</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2009

Kód důvěrnosti údajů

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

Název periodika

Human Mutation

ISSN

1059-7794

e-ISSN

—

Svazek periodika

30

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

1214-1221

Kód UT WoS článku

000268742500010

EID výsledku v databázi Scopus

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