A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
Sign Up to like & getrecommendations! Published in 2019 at "Metabolism: clinical and experimental"
DOI: 10.1016/j.metabol.2019.02.001
Abstract: BACKGROUND GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic diseases involving phenylalanine catabolism, neurotransmitter synthesis, nitric oxide production and so on. Though improvements could be achieved by tetrahydrobiopterin and… read more here.
Keywords: gtpch deficiency; homozygous mutants; motor impairments; infancy onset ... See more keywords
Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP
Sign Up to like & getrecommendations! Published in 2023 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202216491
Abstract: Dysfunction of the endoplasmic reticulum (ER) in insulin‐producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy‐onset diabetes mellitus and severe neurodevelopmental… read more here.
Keywords: endoplasmic reticulum; onset diabetes; infancy onset; bip ... See more keywords
An Infancy-Onset 20-Year Dietary Counselling Intervention and Gut Microbiota Composition in Adulthood
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DOI: 10.3390/nu14132667
Abstract: The randomized controlled Special Turku Coronary Risk Factor Intervention Project (STRIP) has completed a 20-year infancy-onset dietary counselling intervention to reduce exposure to atherosclerotic cardiovascular disease risk factors via promotion of a heart-healthy diet. The… read more here.
Keywords: counselling intervention; gut microbiota; infancy onset; dietary counselling ... See more keywords