Publications associées à Inborn errors of carbohydrate metabolism

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Jacques Fellay, Christian Axel Wandall Thorball, Alessandro Borghesi, Yu Zhang, Peng Zhang, Qian Zhang

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs) 1,2 , conferring a predisposition to life-threatening COVID-19 pneumonia 3 . ...

Nature Portfolio2023

How to: Diagnose inborn errors of intrinsic and innate immunity to viral, bacterial, mycobacterial, and fungal infections

Alessandro Borghesi

Background: Inborn errors of intrinsic and innate immunity constitute the focus of a growing research field that investigates the molecular mechanisms underlying susceptibility to infections previously not considered part of the spectrum of inborn errors o ...

ELSEVIER SCI LTD2022

Role of the cystathionine beta-synthase / H2S pathway in the development of cellular metabolic dysfunction and pseudohypoxia in down syndrome

Theodora Panagaki

Background: Overexpression of the transsulfuration enzyme cystathionine-beta-synthase (CBS), and overproduction of its product, hydrogen sulfide (H2S) are recognized as potential pathogenetic factors in Down syndrome (DS). The purpose of the study was to d ...

ELSEVIER2022

Magnitude of gluconeogenesis and endogenous glucose production: are they predictable in clinical settings?

Marc Anthony David Habisreutinger

Introduction: Regulation of endogenous glucose production (EGP) is essential for glucose homeostasis. It includes gluconeogenesis (GNG) from non-carbohydrate substrates and hepatic glycogenolysis. Both these pathways are dysregulated in acute stress, but t ...

2021

Investigation of physiological roles of AMPK-activated protein kinase y3

Philipp Jurijvic Rhein

Clinical trials have shown that direct activators of an evolutionary-conserved metabolic sensor, AMP-activated protein kinase (AMPK), are beneficial in preventing/treating a range of metabolic disorders, including type 2 diabetes. These activators, includi ...

EPFL2021

Glycogen metabolism is impaired in the brain of male type 2 diabetic Goto‐Kakizaki rats

João Miguel das Neves Duarte, Ana Francisca Leal Silva Soares

Diabetes impacts the central nervous system predisposing to cognitive decline. While glucose is the main source of energy fueling the adult brain, brain glycogen is necessary for adequate neuronal function, synaptic plasticity and memory. In this study, we ...

2019

Mild inborn errors of metabolism in commonly used inbred mouse strains

Johan Auwerx, Wei Zhang, Evan Graehl Williams

Inbred mouse strains are a cornerstone of translational research but paradoxically many strains carry mild inborn errors of metabolism. For example, alpha-aminoadipic acidemia and branched-chain ketoacid dehydrogenase deficiency are known in C57BL/6J mice. ...

ACADEMIC PRESS INC ELSEVIER SCIENCE2019

Hyperpolarized C-13 Magnetic Resonance Spectroscopy Reveals the Rate-Limiting Role of the Blood-Brain Barrier in the Cerebral Uptake and Metabolism of L-Lactate in Vivo

Bernard Lanz, Mor-Miri Mishkovsky, Tian Cheng, Arnaud Comment, Josefina Adriana Maria Bastiaansen, Hikari Ananda Infinity Yoshihara, Sylvain Eric Lengacher, Yuhei Takado

The dynamics of L-lactate transport across the blood-brain barrier (BBB) and its cerebral metabolism are still subject to debate. We studied lactate uptake and intracellular metabolism in the mouse brain using hyperpolarized C-13 magnetic resonance spectro ...

2018

Submaximal exercise testing at low altitude for prediction of exercise tolerance at high altitude

Johannes Burtscher

Annually, thousands of air travellers visit high altitude destinations to enjoy hiking tours to attractions in surrounding areas. However, many of them are not adequately trained, not sufficiently acclimatized and/or may suffer from pre-existing diseases. ...

OXFORD UNIV PRESS INC2018

Technical and experimental features of Magnetic Resonance Spectroscopy of brain glycogen metabolism

Rolf Gruetter, Hongxia Lei, Ana Francisca Leal Silva Soares

In the brain, glycogen is a source of glucose not only in emergency situations but also during normal brain activity. Altered brain glycogen metabolism is associated with energetic dysregulation in pathological conditions, such as diabetes or epilepsy. Bot ...

Elsevier2017

Physiological Adaptations to Sugar Intake: New Paradigms from Drosophila melanogaster

Bruno Lemaitre, Wen Bin Chng

Sugars are important energy sources, but high sugar intake poses a metabolic challenge and leads to diseases. Drosophila melanogaster is a generalist fruit breeder that encounters high levels of dietary sugars in its natural habitat. Consequently, Drosophi ...

Elsevier2017

Glycogen Supercompensation in the Rat Brain After Acute Hypoglycemia is Independent of Glucose Levels During Recovery

Rolf Gruetter, João Miguel das Neves Duarte

Patients with diabetes display a progressive decay in the physiological counter-regulatory response to hypoglycemia, resulting in hypoglycemia unawareness. The mechanism through which the brain adapts to hypoglycemia may involve brain glycogen. We tested t ...

Springer Verlag2017

Identification of metabolic engineering targets for the enhancement of 1,4-butanediol production in recombinant E. coli using large-scale kinetic models

Vassily Hatzimanikatis, Ljubisa Miskovic, Keng Cher Soh, Stefano Andreozzi

Rational metabolic engineering methods are increasingly employed in designing the commercially viable processes for the production of chemicals relevant to pharmaceutical, biotechnology, and food and beverage industries. With the growing availability of om ...

Elsevier2016

Glutamate Cysteine Ligase-Modulatory Subunit Knockout Mouse Shows Normal Insulin Sensitivity but Reduced Liver Glycogen Storage

Pierre Magistretti, Kim Do

Glutathione (GSH) deficits have been observed in several mental or degenerative illness, and so has the metabolic syndrome. The impact of a decreased glucose metabolism on the GSH system is well-known, but the effect of decreased GSH levels on the energy m ...

Frontiers Media Sa2016

AMP-activated protein kinase : strategies for activation and downstream target identification

Serge Thanh Son Ducommun

AMP-activated protein kinase (AMPK) is an evolutionally conserved key sensor of cellular energy status. Under conditions of cellular energy stress, AMPK is activated and will switch off anabolic processes that consume ATP, while activating catabolic proces ...

EPFL2016

SIRT1 Gain of Function Does Not Mimic or Enhance the Adaptations to Intermittent Fasting

Carlos Canto Alvarez, Patrick Descombes, Sylviane Métairon

Caloric restriction (CR) has been shown to prevent the onset of insulin resistance and to delay age-related physiological decline in mammalian organisms. SIRT1, a NAD(+) -dependent deacetylase enzyme, has been suggested to mediate the adaptive responses to ...

Elsevier2016

Regulation Of Neuron-Astrocyte Metabolic Coupling Across The Sleep-Wake Cycle

Pierre Magistretti, Jean-Marie Petit

Over the last thirty years, a growing number of studies showed that astrocytes play a pivotal role in the energy support to synapses. More precisely, astrocytes adjust energy production to neuronal energy needs through different mechanisms grouped under th ...

Elsevier2016

Familial segregation of group B streptococcal infection in a consanguineous kindred

Jacques Fellay, Alessandro Borghesi

Two cases of neonatal group B streptococcal (GBS) infection occurring in a large consanguineous kindred are described. The observation suggests that susceptibility to isolated GBS disease in this family may have been the result of an inborn error of immuni ...

Elsevier Sci Ltd2016

Imaging liver and brain glycogen metabolism at the nanometer scale

Anders Meibom, Graham Knott, Arnaud Comment, Stéphane Laurent Escrig, Yuhei Takado, Mojgan Masoodi

In mammals, glycogen synthesis and degradation are dynamic processes regulating blood and cerebral glucose-levels within a well-defined physiological range. Despite the essential role of glycogen in hepatic and cerebral metabolism, its spatiotemporal distr ...

Elsevier Science Bv2015

Farnesoid X receptor inhibits glucagon-like peptide-1 production by enteroendocrine L cells

Kristina Schoonjans, Alessia Perino, Yasmine Sebti

Bile acids are signalling molecules, which activate the transmembrane receptor TGR5 and the nuclear receptor FXR. BA sequestrants (BAS) complex bile acids in the intestinal lumen and decrease intestinal FXR activity. The BAS-BA complex also induces glucago ...

Nature Publishing Group2015