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