Martijn G. S. Rutten

Hepatocyte-specific Cas9-mediated editing of G6pc and Slc37a4 elicits comparable biochemical and regulatory responses between glycogen storage disease (GSD) type Ia and Ib mice

Kishore Alagere Krishnamurthy, Ruiqi Xiao, Martijn G. S. Rutten, Trijnie Bos et autres

BACKGROUND/OBJECTIVE: Glycogen storage disease type I (GSD I) is an autosomal recessive inborn error of carbohydrate metabolism. Patients with GSD type Ia and Ib exhibit overlapping and distinct symptoms and complications. Notably, GSD Ia patients show more severe hypertriglyceridemia and higher risk …

nl, in (code pays fourni par la source)

Sport and longevity: an observational study of international athletes

Abdullah Altulea, Martijn G. S. Rutten, Lex B. Verdijk, Marco Demaria

The human lifespan is influenced by various factors, with physical activity being a significant contributor. Despite the clear benefit of exercise on health and longevity, the association between different types of sports and lifespan is yet to be considered. Accordingly, we aimed …

nl (code pays fourni par la source)

Pre-hospital rule-out of non-ST-segment elevation acute coronary syndrome by a single troponin: final one-year outcomes of the ARTICA randomised trial

Goaris W A Aarts, Cyril Camaro, Eddy Adang, Laura Rodwell et autres

BACKGROUND AND AIMS: The healthcare burden of acute chest pain is enormous. In the randomized ARTICA trial, we showed that pre-hospital identification of low-risk patients and rule-out of non-ST-segment elevation acute coronary syndrome (NSTE-ACS) with point-of-care (POC) troponin measurement reduces 30-day healthcare …

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Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib

Kishore Alagere Krishnamurthy, Martijn G. S. Rutten, Joanne A. Hoogerland, Theo H. van Dijk et autres

OBJECTIVE: Carbohydrate Response Element Binding Protein (ChREBP) is a glucose 6-phosphate (G6P)-sensitive transcription factor that acts as a metabolic switch to maintain intracellular glucose and phosphate homeostasis. Hepatic ChREBP is well-known for its regulatory role in glycolysis, the pentose phosphate pathway, and …

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Normalization of hepatic ChREBP activity does not protect against liver disease progression in a mouse model for Glycogen Storage Disease type Ia

Martijn G. S. Rutten, Lei Yu, Joanne H. Hoogerland, Vincent W. Bloks et autres

BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6-phosphatase (G6PC1) activity, which induces severe hepatomegaly and increases the risk for liver cancer. Hepatic GSD Ia is characterized by constitutive activation of …

nl, se, fr, Tunisie (code pays fourni par la source)

C/EBPβ-LIP mediated activation of the malate-aspartate shuttle sensitizes cells to glycolysis inhibition

Tobias Ackermann, Hidde R. Zuidhof, CHRISTINE B. MÜLLER, Gertrud Kortman et autres

Cancer cells use glycolysis for generation of metabolic intermediates and ATP needed for cell growth and proliferation. The transcription factor C/EBPβ-LIP stimulates glycolysis and mitochondrial respiration in cancer cells. We initially observed that high expression of C/EBPβ-LIP makes cells vulnerable to treatment …

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Normalization of hepatic ChREBP activity does not protect against liver disease progression in a mouse model for Glycogen Storage Disease type Ia

Martijn G. S. Rutten, Lei Yu, Joanne H. Hoogerland, Vincent W. Bloks et autres

Abstract Background Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6-phosphatase (G6PC1) activity, which induces severe hepatomegaly and increases the risk for liver cancer. Hepatic GSD Ia is characterized by constitutive activation …

nl, se, Mali (code pays fourni par la source)

Functional Validation of the Putative Oncogenic Activity of PLAU

Federica Sarno, Désirée Goubert, Emilie Logie, Martijn G. S. Rutten et autres

Plasminogen activator, urokinase (PLAU) is involved in cell migration, proliferation and tissue remodeling. PLAU upregulation is associated with an increase in aggressiveness, metastasis, and invasion of several cancer types, including breast cancer. In patients, this translates into decreased sensitivity to hormonal treatment, …

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Understanding hepatic Glycogen Storage Disease type Ia: role of phenotypic heterogeneity and nutrient sensors

Martijn G. S. Rutten

Patients with Glycogen Storage Disease type Ia (GSD Ia), a rare inherited disease affecting glucose metabolism, are at increased risk for liver tumour development but harbour interindividual differences in disease presentation and progression. The studies in this thesis focus on modelling clinical …

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Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review

Alessandro Rossi, Martijn G. S. Rutten, Theo H. van Dijk, Barbara M. Bakker et autres

Hypoglycemia results from an imbalance between glucose entering the blood compartment and glucose demand, caused by a defect in the mechanisms regulating postprandial glucose homeostasis. Hypoglycemia represents one of the most common metabolic emergencies in childhood, potentially leading to serious neurologic sequelae, …

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Increased atherosclerosis in a mouse model of glycogen storage disease type 1a

Anouk M. La Rose, Anouk G. Groenen, Benedek Halmos, Venetia Bazioti et autres

Glycogen storage disease type 1a (GSD Ia) is an inborn error of carbohydrate metabolism. Despite severe hyperlipidemia, GSD Ia patients show limited atherogenesis compared to age-and-gender matched controls. Employing a GSD Ia mouse model that resembles the severe hyperlipidemia in patients, we …

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Disrupted glucose-6-phosphate-ChREBP signalling aggravates hepatomegaly and accelerates liver disease progression in a mouse model for Glycogen Storage Disease type 1a

Martijn G. S. Rutten, Yu Lei, Joanne A. Hoogerland, Trijnie Bos et autres

nl, fr, us (code pays fourni par la source)