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2 562 (0,117s) •

Project

Characterization of the first mouse model of mucopolysaccharidosis type IIIC (NT13122)

The goal of the project is to characterize structural, biochemical and transcriptional changes in knock-out mouse model of hereditary lysosomal disorder, mucopolysaccharidosis type IIIC (MPS IIIC), which was developed as a joint eff...

FG - Pediatrie

  • 2012 - 2015
    • •
  • 5 093 tis. Kč
    • •
  • 5 092 tis. Kč
    • •
  • MZ
Project

Use of tandem mass spectrometry of glycosphinoglipids for diagnosis of lysosomal storage diseases and for monitoring of treatment in Fabry disease. (NR8167)

Inherited lysosomal storage disorders are characterized by accumulation of different substrates due to the deficiency of specific lysosomal hydrolases, defects of protein activators or transport mechanism. In Fabry...

FG - Pediatrie

  • 2004 - 2006
    • •
  • 2 008 tis. Kč
    • •
  • 1 821 tis. Kč
    • •
  • MZ
Project

Progress in methods of laboratory diagnostics of inherited lysosomal neurodegenerative disorders (NT14015)

Lysosomal storage disorders (LSD) are severe hereditary diseases caused by defect in the function of enzyme or noncatalytic protein due to mutation of the corresponding gene. Most of them are associated with a progressive n...

FH - Neurologie, neurochirurgie, neurovědy

  • 2013 - 2015
    • •
  • 6 044 tis. Kč
    • •
  • 5 939 tis. Kč
    • •
  • MZ
Project

Biochemistry and Cell Biology of Human Acetyl-Coenzyme A Alpha-Glucosaminide N-Acetyltransferase ? Basis for Future Therapeutic Applications in Mucopolysaccharidosis type IIIC (NS10342)

lysosomal degradation of glycosaminoglycan heparan sulfate. The inherited deficiency of HGSNAT results in its lysosomal storage and in clinical phenotype of MPSIIIC of HGSNAT, but also in higher ordering of lysosomal

EB - Genetika a molekulární biologie

  • 2009 - 2011
    • •
  • 6 730 tis. Kč
    • •
  • 6 730 tis. Kč
    • •
  • MZ
Project

iPS cellular models of X-linked lysosomal disorders with cardiac involvement as a tool for development of novel diagnostic and therapeutic approaches (NV15-33297A)

The only lysosomal storage disorders with X-linked inheritance are mucopolysaccharidosis type II (MPSII, iduronate-2-sulfatase deficit), Danon (DD, LAMP2 deficit) and Fabry (FD, ?-galactosidase deficit) diseases. All expres...

FP - Ostatní lékařské obory

  • 2015 - 2018
    • •
  • 8 794 tis. Kč
    • •
  • 8 794 tis. Kč
    • •
  • MZ
Project

Caenorhabditis elegans as a model organism for the study of inherited metabolic diseases (GA303/02/1324)

thus models of lysosomal storage diseases and disorders of methionine and folateOur preliminary studies have shown that there is a good conservation of function and stucture of lysosomal proteins and proteins of m...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2002 - 2004
    • •
  • 2 836 tis. Kč
    • •
  • 2 836 tis. Kč
    • •
  • GA ČR
Project

Evaluation of new biomarkers of Fabry disease in selected groups of patients in the Czech Republic (NU21-08-00324)

Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disorder (LSD result in the deficient enzymatic activity of the lysosomal alpha-galactosidase accumulate in lysosomes. Heart, kidneys, and e...

Analytical chemistry

  • 2021 - 2025
    • •
  • 11 114 tis. Kč
    • •
  • 11 114 tis. Kč
    • •
  • MZ
Project

Phenotype-genotype relations in lysosomal storage diseases related to beta-galactosidase deficiency (MEB060904)

Alterations in the structural gene (GLB1) of acid ß-galactosidase (ß-gal; EC 3.2.1.23) can result in two different phenotypes of lysosomal storage diseases, GM1-gangliosidosis (OMIM #230500) and Morquio disease type B (OMIM #253010)...

CE - Biochemie

  • 2009 - 2010
    • •
  • 134 tis. Kč
    • •
  • 134 tis. Kč
    • •
  • MŠMT
Project

Niemann-Pick disease type C clinical, molecular genetic, biochemical and morphological study. Development of new diagnostic and predictive algorithms (NT12239)

Niemann-Pick disease type C1 (NPC1) is a severe neurovisceral lysosomal storage disorder with significant psychosocial impacts for affected families and, due to financial costs, also for the healthcare systems. Accurate NPC...

FH - Neurologie, neurochirurgie, neurovědy

  • 2011 - 2015
    • •
  • 9 211 tis. Kč
    • •
  • 9 211 tis. Kč
    • •
  • MZ
Project

Enhancement of Hydrogen Storage Properties of AlTiVCr Light Weight High Entropy Alloys (HEA) by Ti3C2 Mxene and Several Plastic Deformation (EHSAL) (8I22001)

hydride for future hydrogen storage application if its H to m ratio and hydrogenation in desorption enthalpy (H) relative to the benchmark TiVZrNbHf HEA possessing H to M ratio desorption enthalpy H is approximately 40 kJ ...

Materials engineering

  • 2022 - 2025
    • •
  • 7 217 tis. Kč
    • •
  • 7 217 tis. Kč
    • •
  • MŠMT
  • 1 - 10 out of 2 562