Publications related to Inborn errors of metabolism

Related publications (27)

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

Jacques Fellay, Christian Axel Wandall Thorball, Alessandro Borghesi

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

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

Xiaoxu Li

Long-term consumption of lipid-rich foods can contribute to common metabolic diseases and systemic low-grade inflammation. However, dietary responses and the development of non-communicable diseases are shaped by genetic factors and gene-by-environment int ...

EPFL2023

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Jacques Fellay

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvac ...

BMC2023

Spatiotemporal Metabolic Liver Zonation and Consequences on Pathophysiology

Felix Naef, Tomaz Martini

Hepatocytes are the main workers in the hepatic factory, managing metabolism of nutrients and xenobiotics, production and recycling of proteins, and glucose and lipid homeostasis. Division of labor between hepatocytes is critical to coordinate complex comp ...

ANNUAL REVIEWS2023

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

Post-translational regulation of neuronal differentiation

Jaipreet Singh Loomba

Glycosphingolipids (GSLs) are amphipathic lipid moieties that make up only 3% of the total lipid content of the cell and are almost exclusively expressed at the Plasma Membrane(PM). They are key drivers of signalling hotspots known as â lipid-raftsâ as ...

EPFL2021

Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection

Alessandro Borghesi

Unusual, severe infections or inflammatory episodes in newborns and infants are largely unexplained and often attributed to immature immune responses. Inborn errors of immunity (IEI) are increasingly recognized as the etiology of life-threatening inflammat ...

KARGER2021

In vivo detection of d-amino acid oxidase with hyperpolarized d-[1-C-13]alanine

Rolf Gruetter, Hikari Ananda Infinity Yoshihara, Alice Radaelli

d-amino acid oxidase (DAO) is a peroxisomal enzyme that catalyzes the oxidative deamination of several neutral and basic d-amino acids to their corresponding alpha-keto acids. In most mammalian species studied, high DAO activity is found in the kidney, liv ...

2020

Endogenous nicotinamide riboside metabolism protects against diet-induced liver damage

Carlos Canto Alvarez, Joanna Ratajczak, Miriam Valera Alberni

Supplementation with the NAD(+) precursor nicotinamide riboside (NR) ameliorates and prevents a broad array of metabolic and aging disorders in mice. However, little is known about the physiological role of endogenous NR metabolism. We have previously show ...

Nature Research2019

Mild inborn errors of metabolism in commonly used inbred mouse strains

Johan Auwerx, 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

Towards comprehensive and consistent kinetic models of metabolism under uncertainty

Tuure Eelis Hameri

Metabolism is the sum of the chemical interactions occurring inside a cell that process nutrients into cellular constituents and energy. Research in the recent decades has enabled the characterization of metabolic reaction networks for multiple organisms. ...

EPFL2019

Semisynthetic sensor proteins enable metabolic assays at the point of care

Kai Johnsson, Rudolf Griss, Qiuliyang Yu, Lin Xue, Julien Hiblot

Monitoring metabolites at the point of care could improve the diagnosis and management of numerous diseases. Yet for most metabolites, such assays are not available. We introduce semisynthetic, light-emitting sensor proteins for use in paper-based metaboli ...

American Association for the Advancement of Science2018

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

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

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

Ultra high magnetic field for glial contribution into brain metabolism studied by MR spectroscopy and CEST methods for molecular imaging of glycogen

Elise Marie Catherine Vinckenbosch

Magnetic resonance at ultra-high field increases signal and spectral dispersion. In this thesis, I use those characteristics to investigate three different subjects in 13C spectroscopy, hyperpolarized methods and chemical exchange saturation transfer (CEST ...

EPFL2018

Modulating NAD(+) metabolism, from bench to bedside

Johan Auwerx, Elena Katsyuba

Discovered in the beginning of the 20(th) century, nicotinamide adenine dinucleotide (NAD(+)) has evolved from a simple oxidoreductase cofactor to being an essential cosubstrate for a wide range of regulatory proteins that include the sirtuin family of NAD ...

Wiley2017

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

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

Brain energy metabolism measured by 13C magnetic resonance spectroscopy in vivo upon infusion of [3-13C]lactate

João Miguel das Neves Duarte, Rolf Gruetter

The brain uses lactate produced by glycolysis as an energy source. How lactate originated from the blood stream is used to fuel brain metabolism is not clear. The current study measures brain metabolic fluxes and estimates the amount of pyruvate that becom ...

Wiley-Blackwell2015

Hyperpolarized 13C lactate as a substrate for in vivo metabolic studies in skeletal muscle

Rolf Gruetter, Arnaud Comment, Josefina Adriana Maria Bastiaansen, Hikari Ananda Infinity Yoshihara, Yuhei Takado

Resting skeletal muscle has a preference for the oxidation of lipids compared to carbohydrates and a shift towards carbohydrate oxidation is observed with increasing exercise. Lactate is not only an end product in skeletal muscle but also an important meta ...

2014

Metabolic Disturbances in Diseases with Neurological Involvement

Degeneration of specific neuronal populations and progressive nervous system dysfunction characterize neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. These findings are also reported in inherited diseases such as phenylke ...

Int Soc Aging & Disease2014