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

Result code in 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>
Result on the web
<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>

Result language
angličtina
Original language name
GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
Original language description
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
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/MEB060904" target="_blank" >MEB060904: Phenotype-genotype relations in lysosomal storage diseases related to beta-galactosidase deficiency</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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