Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Estera Rintz"'
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1113 (2024)
Mucopolysaccharidoses (MPSs) are a group of inborn errors of the metabolism caused by a deficiency in the lysosomal enzymes required to break down molecules called glycosaminoglycans (GAGs). These GAGs accumulate over time in various tissues and disr
Externí odkaz:
https://doaj.org/article/7ceef241404e448d9c7a1b9eed227b01
Publikováno v:
Cells, Vol 12, Iss 13, p 1782 (2023)
The main approach used in the current therapy of mucopolysaccharidosis (MPS) is to reduce the levels of glycosaminoglycans (GAGs) in cells, the deposits considered to be the main cause of the disease. Previous studies have revealed significant differ
Externí odkaz:
https://doaj.org/article/daa6cf8e34834ebb8605a5e9a6e1f458
Autor:
Magdalena Żabińska, Lidia Gaffke, Patrycja Bielańska, Magdalena Podlacha, Estera Rintz, Zuzanna Cyske, Grzegorz Węgrzyn, Karolina Pierzynowska
Publikováno v:
Pharmaceutics, Vol 15, Iss 2, p 704 (2023)
Mucopolysaccharidoses (MPS) are rare genetic disorders belonging to the lysosomal storage diseases. They are caused by mutations in genes encoding lysosomal enzymes responsible for degrading glycosaminoglycans (GAGs). As a result, GAGs accumulate in
Externí odkaz:
https://doaj.org/article/72b76420239a4d05b4ecaac03a97de37
Autor:
Karolina Pierzynowska, Lidia Gaffke, Elżbieta Jankowska, Estera Rintz, Julia Witkowska, Ewa Wieczerzak, Magdalena Podlacha, Grzegorz Węgrzyn
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
In this study, we have asked whether proteasome composition and function are affected in cells derived from patients suffering from all types of mucopolysaccharidosis (MPS), an inherited metabolic disease caused by accumulation of undegraded glycosam
Externí odkaz:
https://doaj.org/article/ea6b7f889bcd489f9c0dac6dabfece65
Autor:
Lidia Gaffke, Zuzanna Szczudło, Magdalena Podlacha, Zuzanna Cyske, Estera Rintz, Jagoda Mantej, Karolina Krzelowska, Grzegorz Węgrzyn, Karolina Pierzynowska
Publikováno v:
Metabolic Brain Disease
Mucopolysaccharidoses (MPS) are a group of diseases caused by mutations resulting in deficiencies of lysosomal enzymes which lead to the accumulation of partially undegraded glycosaminoglycans (GAG). This phenomenon causes severe and chronic disturba
Publikováno v:
European journal of pharmacology. 888
Mucopolysaccharidoses (MPS) represent a devastating group of lysosomal storage diseases (LSD) affecting approximately 1 in 25,000 individuals, where degradation of glycosaminoglycans (GAG) by lysosomal enzymes is impaired due to mutations causing def
Autor:
Joanna Brokowska, Estera Rintz, Zuzanna Cyske, Karolina Pierzynowska, Lidia Gaffke, Magdalena Podlacha, Dżesika Hoinkis, Grzegorz Węgrzyn
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1204 (2020)
Volume 21
Issue 4
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1204 (2020)
Volume 21
Issue 4
Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders caused by deficiency in enzymes involved in degradation of glycosaminoglycans (GAGs), are examples (and models) of monogenic diseases. Accumulation of undegraded GAGs in lysosomes
Autor:
Joanna Brokowska, Karolina Pierzynowska, Grzegorz Węgrzyn, Magdalena Podlacha, Estera Rintz, Zuzanna Cyske, Lidia Gaffke
Publikováno v:
Molecular Genetics and Metabolism. 129:S160-S161