62
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29 July 2024

Excessive fructose consumption is associated with metabolic disorders such as obesity, diabetes and non-alcoholic fatty liver disease (NAFLD). Ketohexokinase (KHK) is an enzyme catalyzing the first committed step in fructose metabolism, by...

69
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15 July 2024

The enzyme GTP cyclohydrolase I (GCH1) catalyzes the first and rate limiting step in the biosynthesis of tetrahydrobiopterin (BH4) from GTP. BH4 is a critical cofactor in the degradation of the amino acid phenylalanine, the production of the signaling molecule nitric oxide (NO), as well as the synthesis of the neurotransmitters...

23
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01 July 2024

Technical advances in genome sequencing, including long read sequencing, became very popular in recent years allowing us to overcome technical challenges in linking disease phenotypes to nucleotide polymorphisms. For the first time, we are...

36
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21 May 2024

The Kirsten rat sarcoma viral oncogene homologue (KRAS) protein is a small membrane-bound GTPase (GTP hydrolase), acting as a key node in intracellular signaling pathways that are involved in cell growth and survival. Mutations in...

43
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06 May 2024

The visual impairment caused by various diseases significantly impacts the quality of patients` life. The eye is a very sensitive organ with a sophisticated physiology and is composed of anterior and posterior segments. Especially the administration...

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