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Projekt

Hydrogen sulfide metabolism in homocystinurias (LD14082)

remethylation typeof homocystinuria is accompanied by increased production of H2S due of patients withhomocystinuria, c/ in plasmas of patients with homocystinuria and d/ in C. elegans with homocystinuria. The results of t...

EB - Genetika a molekulární biologie

  • 2014 - 2015
  • 763 tis. Kč
  • 718 tis. Kč
  • MŠMT
Projekt

Metabolism of organic and inorganic sulfur compounds in selected human diseases (NV16-30384A)

Metabolic syndrome-a risk factor for arteriosclerosis and diabetes type 2- is one of the major population health burdens while homocystinurias are rare genetic with homocystinurias, obese patients and controls, and in cultured human...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2016 - 2020
  • 12 003 tis. Kč
  • 11 241 tis. Kč
  • MZ
Projekt

RAre DIsorders of SUlfur amino acid Metabolism deep phenotyping and development of novel diagnostic approaches (RADISUM) (NU23-07-00383)

homocystinuria. Individual disorders have been discovered since the 1960s. As in other rare...

Human genetics

  • 2023 - 2026
  • 12 446 tis. Kč
  • 12 446 tis. Kč
  • MZ
Projekt

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

metabolism, including homocystinuria. The models will be generated using RNA-mediated...

FB - Endokrinologie, diabetologie, metabolismus, výživa

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

Optimalization of Laboratory Newborn Screening of Inherited Metabolic Disorders (NT12213)

IEMs suchas urea cycle disorders, homocystinurias, propionic and methylmalonic...

FG - Pediatrie

  • 2011 - 2013
  • 7 056 tis. Kč
  • 7 056 tis. Kč
  • MZ
Projekt

Etiology of severely disturbed sulfur amino acid metabolism a basis for targeted diagnosis and personalized treatment in the Czech Republic (NV19-01-00307)

Sulfur amino acids are essential nutrients needed for proteosynthesis and production of compounds that are necessary for methylations and redox reactions. Homocysteine is an intermediate in the intracellular methionine turnover and may serve as a uni...

Human genetics

  • 2019 - 2022
  • 10 583 tis. Kč
  • 10 583 tis. Kč
  • MZ
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